Canonical Allele Identifier: CA8423582

Gene: MYO15A

Linked Data

• ClinVar Variation Id: 322133
• ClinVar RCV Id: RCV000355997 ; RCV003765868
• dbSNP Id: rs370530786
• ExAC: 17:18029648 G / A
• gnomAD v2: 17-18029648-G-A
• gnomAD v3: 17-18126334-G-A
• gnomAD v4: 17-18126334-G-A
• MyVariant Identifiers: chr17:g.18029648G>A (hg19) ; chr17:g.18126334G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18126334G>A , CM000679.2:g.18126334G>A	GRCh38
NC_000017.10:g.18029648G>A , CM000679.1:g.18029648G>A	GRCh37
NC_000017.9:g.17970373G>A	NCBI36
NG_011634.1:g.22629G>A
NG_011634.2:g.22629G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647165.2:c.3757-13G>A MANE Select	ENSP00000495481.1:n.3757-13G>A
ENST00000205890.9:c.3757-13G>A	ENSP00000205890.5:n.3757-13G>A
ENST00000615845.4:c.3757-13G>A	ENSP00000481642.1:n.3757-13G>A
NM_016239.3:c.3757-13G>A	NP_057323.3:n.3757-13G>A
XM_011523917.1:c.3757-13G>A	XP_011522219.1:n.3757-13G>A
XM_011523918.1:c.3757-13G>A	XP_011522220.1:n.3757-13G>A
XM_011523919.1:c.3757-13G>A	XP_011522221.1:n.3757-13G>A
XM_011523920.1:c.3757-13G>A	XP_011522222.1:n.3757-13G>A
XM_011523921.1:c.3757-13G>A	XP_011522223.1:n.3757-13G>A
XR_934037.1:n.4416-13G>A
XR_934038.1:n.4416-13G>A
XR_934039.1:n.4416-13G>A
XM_011523918.2:c.3757-13G>A	XP_011522220.1:n.3757-13G>A
XM_017024714.2:c.3757-13G>A	XP_016880203.1:n.3757-13G>A
XM_017024715.2:c.3757-13G>A	XP_016880204.1:n.3757-13G>A
XM_024450780.1:c.3757-13G>A	XP_024306548.1:n.3757-13G>A
XM_024450781.1:c.3757-13G>A	XP_024306549.1:n.3757-13G>A
XM_024450782.1:c.3757-13G>A	XP_024306550.1:n.3757-13G>A
XR_934039.2:n.4455-13G>A
NM_016239.4:c.3757-13G>A MANE Select	NP_057323.3:n.3757-13G>A