Canonical Allele Identifier: CA398606772

Gene: MYO15A

Linked Data

• gnomAD v4: 17-18145984-C-T
• MyVariant Identifiers: chr17:g.18049298C>T (hg19) ; chr17:g.18145984C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18145984C>T , CM000679.2:g.18145984C>T	GRCh38
NC_000017.10:g.18049298C>T , CM000679.1:g.18049298C>T	GRCh37
NC_000017.9:g.17990023C>T	NCBI36
NG_011634.1:g.42279C>T
NG_011634.2:g.42279C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647165.2:c.6386C>T MANE Select	ENSP00000495481.1:p.Ala2129Val
ENST00000205890.9:c.6386C>T	ENSP00000205890.5:p.Ala2129Val
ENST00000615845.4:c.6386C>T	ENSP00000481642.1:p.Ala2129Val
NM_016239.3:c.6386C>T	NP_057323.3:p.Ala2129Val
XM_011523917.1:c.6326C>T	XP_011522219.1:p.Ala2109Val
XM_011523918.1:c.6326C>T	XP_011522220.1:p.Ala2109Val
XM_011523921.1:c.6380C>T	XP_011522223.1:p.Ala2127Val
XR_934037.1:n.6985C>T
XR_934038.1:n.6985C>T
XM_011523918.2:c.6326C>T	XP_011522220.1:p.Ala2109Val
XM_017024714.2:c.6326C>T	XP_016880203.1:p.Ala2109Val
XM_017024715.2:c.6389C>T	XP_016880204.1:p.Ala2130Val
XM_024450781.1:c.6213+1392C>T	XP_024306549.1:n.6213+1392C>T
NM_016239.4:c.6386C>T MANE Select	NP_057323.3:p.Ala2129Val