Canonical Allele Identifier: CA396768166

Gene: FA2H

Linked Data

• gnomAD v4: 16-74774538-G-T
• MyVariant Identifiers: chr16:g.74808436G>T (hg19) ; chr16:g.74774538G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74774538G>T , CM000678.2:g.74774538G>T	GRCh38
NC_000016.9:g.74808436G>T , CM000678.1:g.74808436G>T	GRCh37
NC_000016.8:g.73365937G>T	NCBI36
NG_017070.1:g.5294C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219368.8:c.218C>A MANE Select	ENSP00000219368.3:p.Ala73Glu
ENST00000219368.7:c.218C>A	ENSP00000219368.3:p.Ala73Glu
ENST00000567683.5:c.218C>A	ENSP00000455126.1:p.Ala73Glu
NM_024306.4:c.218C>A	NP_077282.3:p.Ala73Glu
XM_011523317.1:c.218C>A	XP_011521619.1:p.Ala73Glu
XM_011523318.1:c.218C>A	XP_011521620.1:p.Ala73Glu
XM_011523317.3:c.218C>A	XP_011521619.1:p.Ala73Glu
NM_024306.5:c.218C>A MANE Select	NP_077282.3:p.Ala73Glu