Canonical Allele Identifier: CA8424555

Gene: MYO15A

Linked Data

• dbSNP Id: rs756273827
• ExAC: 17:18049181 C / T
• gnomAD v2: 17-18049181-C-T
• gnomAD v4: 17-18145867-C-T
• MyVariant Identifiers: chr17:g.18049181C>T (hg19) ; chr17:g.18145867C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18145867C>T , CM000679.2:g.18145867C>T	GRCh38
NC_000017.10:g.18049181C>T , CM000679.1:g.18049181C>T	GRCh37
NC_000017.9:g.17989906C>T	NCBI36
NG_011634.1:g.42162C>T
NG_011634.2:g.42162C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647165.2:c.6274-5C>T MANE Select	ENSP00000495481.1:n.6274-5C>T
ENST00000205890.9:c.6274-5C>T	ENSP00000205890.5:n.6274-5C>T
ENST00000615845.4:c.6274-5C>T	ENSP00000481642.1:n.6274-5C>T
NM_016239.3:c.6274-5C>T	NP_057323.3:n.6274-5C>T
XM_011523917.1:c.6214-5C>T	XP_011522219.1:n.6214-5C>T
XM_011523918.1:c.6214-5C>T	XP_011522220.1:n.6214-5C>T
XM_011523921.1:c.6268-5C>T	XP_011522223.1:n.6268-5C>T
XR_934037.1:n.6873-5C>T
XR_934038.1:n.6873-5C>T
XM_011523918.2:c.6214-5C>T	XP_011522220.1:n.6214-5C>T
XM_017024714.2:c.6214-5C>T	XP_016880203.1:n.6214-5C>T
XM_017024715.2:c.6277-5C>T	XP_016880204.1:n.6277-5C>T
XM_024450781.1:c.6213+1275C>T	XP_024306549.1:n.6213+1275C>T
NM_016239.4:c.6274-5C>T MANE Select	NP_057323.3:n.6274-5C>T