Canonical Allele Identifier: CA625315104
Gene: MYO15A HGNC NCBI

Linked Data

ClinVar Variation Id: 2973508
ClinVar RCV Id: RCV003830602
dbSNP Id: rs1197089571
gnomAD v2: 17-18049170-T-A
gnomAD v4: 17-18145856-T-A
MyVariant Identifiers: chr17:g.18049170T>A (hg19) chr17:g.18145856T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18145856T>A , CM000679.2:g.18145856T>A GRCh38
NC_000017.10:g.18049170T>A , CM000679.1:g.18049170T>A GRCh37
NC_000017.9:g.17989895T>A NCBI36
NG_011634.1:g.42151T>A
NG_011634.2:g.42151T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.6274-16T>A MANE Select ENSP00000495481.1:n.6274-16T>A
ENST00000205890.9:c.6274-16T>A ENSP00000205890.5:n.6274-16T>A
ENST00000615845.4:c.6274-16T>A ENSP00000481642.1:n.6274-16T>A
NM_016239.3:c.6274-16T>A NP_057323.3:n.6274-16T>A
XM_011523917.1:c.6214-16T>A XP_011522219.1:n.6214-16T>A
XM_011523918.1:c.6214-16T>A XP_011522220.1:n.6214-16T>A
XM_011523921.1:c.6268-16T>A XP_011522223.1:n.6268-16T>A
XR_934037.1:n.6873-16T>A
XR_934038.1:n.6873-16T>A
XM_011523918.2:c.6214-16T>A XP_011522220.1:n.6214-16T>A
XM_017024714.2:c.6214-16T>A XP_016880203.1:n.6214-16T>A
XM_017024715.2:c.6277-16T>A XP_016880204.1:n.6277-16T>A
XM_024450781.1:c.6213+1264T>A XP_024306549.1:n.6213+1264T>A
NM_016239.4:c.6274-16T>A MANE Select NP_057323.3:n.6274-16T>A
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