Canonical Allele Identifier: CA726644384
Gene: MYO15A HGNC NCBI

Linked Data

dbSNP Id: rs1364300771
gnomAD v4: 17-18146206-T-C
MyVariant Identifiers: chr17:g.18049520T>C (hg19) chr17:g.18146206T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18146206T>C , CM000679.2:g.18146206T>C GRCh38
NC_000017.10:g.18049520T>C , CM000679.1:g.18049520T>C GRCh37
NC_000017.9:g.17990245T>C NCBI36
NG_011634.1:g.42501T>C
NG_011634.2:g.42501T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.6509+99T>C MANE Select ENSP00000495481.1:n.6509+99T>C
ENST00000205890.9:c.6509+99T>C ENSP00000205890.5:n.6509+99T>C
ENST00000578999.1:n.94+99T>C
ENST00000615845.4:c.6509+99T>C ENSP00000481642.1:n.6509+99T>C
NM_016239.3:c.6509+99T>C NP_057323.3:n.6509+99T>C
XM_011523917.1:c.6449+99T>C XP_011522219.1:n.6449+99T>C
XM_011523918.1:c.6342+206T>C XP_011522220.1:n.6342+206T>C
XM_011523921.1:c.6503+99T>C XP_011522223.1:n.6503+99T>C
XR_934037.1:n.7108+99T>C
XR_934038.1:n.7108+99T>C
XM_011523918.2:c.6342+206T>C XP_011522220.1:n.6342+206T>C
XM_017024714.2:c.6449+99T>C XP_016880203.1:n.6449+99T>C
XM_017024715.2:c.6512+99T>C XP_016880204.1:n.6512+99T>C
XM_024450781.1:c.6213+1614T>C XP_024306549.1:n.6213+1614T>C
NM_016239.4:c.6509+99T>C MANE Select NP_057323.3:n.6509+99T>C
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