Canonical Allele Identifier: CA381938402
Gene: MYO7A HGNC NCBI

Linked Data

dbSNP Id: rs1328009205
MyVariant Identifiers: chr11:g.76925025G>C (hg19) chr11:g.77213980G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77213980G>C , CM000673.2:g.77213980G>C GRCh38
NC_000011.9:g.76925025G>C , CM000673.1:g.76925025G>C GRCh37
NC_000011.8:g.76602673G>C NCBI36
NG_009086.1:g.90716G>C
NG_009086.2:g.90735G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000409709.9:c.6558+1G>C MANE Select ENSP00000386331.3:n.6558+1G>C
ENST00000670577.1:c.4359+1G>C
ENST00000409619.6:c.6411+1G>C ENSP00000386635.2:n.6411+1G>C
ENST00000409709.7:c.6558+1G>C ENSP00000386331.3:n.6558+1G>C
ENST00000458169.2:c.3984+1G>C ENSP00000417017.2:n.3984+1G>C
ENST00000458637.6:c.6438+1G>C ENSP00000392185.2:n.6438+1G>C
ENST00000481328.7:n.5108+1G>C
ENST00000605744.1:n.2072+1G>C
NM_000260.3:c.6558+1G>C NP_000251.3:n.6558+1G>C
NM_001127180.1:c.6438+1G>C NP_001120652.1:n.6438+1G>C
XM_005274012.2:c.6441+1G>C XP_005274069.1:n.6441+1G>C
XM_006718561.2:c.6444+1G>C XP_006718624.1:n.6444+1G>C
XR_949941.1:n.6852+1G>C
XM_017017780.1:c.6648+1G>C XP_016873269.1:n.6648+1G>C
XM_017017784.1:c.6531+1G>C XP_016873273.1:n.6531+1G>C
XM_017017788.1:c.6534+1G>C XP_016873277.1:n.6534+1G>C
XR_001747885.1:n.6637+1G>C
XR_001747887.1:n.6623+1G>C
NM_000260.4:c.6558+1G>C MANE Select NP_000251.3:n.6558+1G>C
NM_001127180.2:c.6438+1G>C NP_001120652.1:n.6438+1G>C
NM_001369365.1:c.6411+1G>C NP_001356294.1:n.6411+1G>C
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