Canonical Allele Identifier: CA2615266789
Gene: MYO7A HGNC NCBI
gnomAD v4:
chr11-77212863-A-G
Joint Max Group AF 4.5e-7 (NFE)
Exomes Max Group AF 5e-7 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77212863A>G , CM000673.2:g.77212863A>G GRCh38
NC_000011.9:g.76923908A>G , CM000673.1:g.76923908A>G GRCh37
NC_000011.8:g.76601556A>G NCBI36
NG_009086.1:g.89599A>G
NG_009086.2:g.89618A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409709.9:c.6355-89A>G MANE Select ENSP00000386331.3:n.6355-89A>G
ENST00000670577.1:c.4156-89A>G
ENST00000409619.6:c.6208-89A>G ENSP00000386635.2:n.6208-89A>G
ENST00000409709.7:c.6355-89A>G ENSP00000386331.3:n.6355-89A>G
ENST00000458169.2:c.3781-89A>G ENSP00000417017.2:n.3781-89A>G
ENST00000458637.6:c.6235-89A>G ENSP00000392185.2:n.6235-89A>G
ENST00000481328.7:n.4816A>G
ENST00000481532.1:n.329A>G
ENST00000526863.2:n.344A>G
ENST00000605744.1:n.1869-89A>G
NM_000260.3:c.6355-89A>G NP_000251.3:n.6355-89A>G
NM_001127180.1:c.6235-89A>G NP_001120652.1:n.6235-89A>G
XM_005274012.2:c.6238-89A>G XP_005274069.1:n.6238-89A>G
XM_006718561.2:c.6241-89A>G XP_006718624.1:n.6241-89A>G
XM_011545051.1:c.*27-89A>G XP_011543353.1:n.*27-89A>G
XR_949941.1:n.6649-89A>G
XM_017017780.1:c.6445-89A>G XP_016873269.1:n.6445-89A>G
XM_017017784.1:c.6328-89A>G XP_016873273.1:n.6328-89A>G
XM_017017786.1:c.*27-89A>G XP_016873275.1:n.*27-89A>G
XM_017017788.1:c.6331-89A>G XP_016873277.1:n.6331-89A>G
XR_001747885.1:n.6434-89A>G
XR_001747887.1:n.6420-89A>G
NM_000260.4:c.6355-89A>G MANE Select NP_000251.3:n.6355-89A>G
NM_001127180.2:c.6235-89A>G NP_001120652.1:n.6235-89A>G
NM_001369365.1:c.6208-89A>G NP_001356294.1:n.6208-89A>G
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