Canonical Allele Identifier: CA398606783
Gene: MYO15A HGNC NCBI

Linked Data

gnomAD v4: 17-18145987-A-G
MyVariant Identifiers: chr17:g.18049301A>G (hg19) chr17:g.18145987A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18145987A>G , CM000679.2:g.18145987A>G GRCh38
NC_000017.10:g.18049301A>G , CM000679.1:g.18049301A>G GRCh37
NC_000017.9:g.17990026A>G NCBI36
NG_011634.1:g.42282A>G
NG_011634.2:g.42282A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.6389A>G MANE Select ENSP00000495481.1:p.Gln2130Arg
ENST00000205890.9:c.6389A>G ENSP00000205890.5:p.Gln2130Arg
ENST00000615845.4:c.6389A>G ENSP00000481642.1:p.Gln2130Arg
NM_016239.3:c.6389A>G NP_057323.3:p.Gln2130Arg
XM_011523917.1:c.6329A>G XP_011522219.1:p.Gln2110Arg
XM_011523918.1:c.6329A>G XP_011522220.1:p.Gln2110Arg
XM_011523921.1:c.6383A>G XP_011522223.1:p.Gln2128Arg
XR_934037.1:n.6988A>G
XR_934038.1:n.6988A>G
XM_011523918.2:c.6329A>G XP_011522220.1:p.Gln2110Arg
XM_017024714.2:c.6329A>G XP_016880203.1:p.Gln2110Arg
XM_017024715.2:c.6392A>G XP_016880204.1:p.Gln2131Arg
XM_024450781.1:c.6213+1395A>G XP_024306549.1:n.6213+1395A>G
NM_016239.4:c.6389A>G MANE Select NP_057323.3:p.Gln2130Arg
Search 100 bp 5'
Search 100 bp 3'