Canonical Allele Identifier: CA8170478

Gene: FA2H

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74726238C>T , CM000678.2:g.74726238C>T	GRCh38
NC_000016.9:g.74760136C>T , CM000678.1:g.74760136C>T	GRCh37
NC_000016.8:g.73317637C>T	NCBI36
NG_017070.1:g.53594G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024306.5:c.600G>A MANE Select	NP_077282.3:p.Thr200=
ENST00000219368.8:c.600G>A MANE Select	ENSP00000219368.3:p.Thr200=
NM_024306.4:c.600G>A	NP_077282.3:p.Thr200=
ENST00000219368.7:c.600G>A	ENSP00000219368.3:p.Thr200=
ENST00000567683.5:c.364-7078G>A	ENSP00000455126.1:n.364-7078G>A
ENST00000569949.1:c.402G>A	ENSP00000464576.1:p.Thr134=
ENST00000618933.1:c.10G>A
XM_011523317.1:c.600G>A	XP_011521619.1:p.Thr200=
XM_011523317.3:c.600G>A	XP_011521619.1:p.Thr200=
XM_011523318.1:c.600G>A	XP_011521620.1:p.Thr200=
XM_011523319.1:c.360G>A	XP_011521621.1:p.Thr120=
XM_011523319.2:c.360G>A	XP_011521621.1:p.Thr120=