Canonical Allele Identifier: CA496690825

Gene: FA2H

Linked Data

• ClinVar Variation Id: 2765287
• ClinVar RCV Id: RCV003590394
• gnomAD v4: 16-74774597-C-T
• MyVariant Identifiers: chr16:g.74808495C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74774597C>T , CM000678.2:g.74774597C>T	GRCh38
NC_000016.9:g.74808495C>T , CM000678.1:g.74808495C>T	GRCh37
NC_000016.8:g.73365996C>T	NCBI36
NG_017070.1:g.5235G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219368.8:c.159G>A MANE Select	ENSP00000219368.3:p.Arg53=
ENST00000219368.7:c.159G>A	ENSP00000219368.3:p.Arg53=
ENST00000567683.5:c.159G>A	ENSP00000455126.1:p.Arg53=
NM_024306.4:c.159G>A	NP_077282.3:p.Arg53=
XM_011523317.1:c.159G>A	XP_011521619.1:p.Arg53=
XM_011523318.1:c.159G>A	XP_011521620.1:p.Arg53=
XM_011523317.3:c.159G>A	XP_011521619.1:p.Arg53=
NM_024306.5:c.159G>A MANE Select	NP_077282.3:p.Arg53=