Canonical Allele Identifier: CA496690507

Gene: FA2H

Linked Data

• gnomAD v4: 16-74774522-C-T
• MyVariant Identifiers: chr16:g.74808420C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74774522C>T , CM000678.2:g.74774522C>T	GRCh38
NC_000016.9:g.74808420C>T , CM000678.1:g.74808420C>T	GRCh37
NC_000016.8:g.73365921C>T	NCBI36
NG_017070.1:g.5310G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219368.8:c.234G>A MANE Select	ENSP00000219368.3:p.Glu78=
ENST00000219368.7:c.234G>A	ENSP00000219368.3:p.Glu78=
ENST00000567683.5:c.234G>A	ENSP00000455126.1:p.Glu78=
NM_024306.4:c.234G>A	NP_077282.3:p.Glu78=
XM_011523317.1:c.234G>A	XP_011521619.1:p.Glu78=
XM_011523318.1:c.234G>A	XP_011521620.1:p.Glu78=
XM_011523317.3:c.234G>A	XP_011521619.1:p.Glu78=
NM_024306.5:c.234G>A MANE Select	NP_077282.3:p.Glu78=