Canonical Allele Identifier: CA496547684

Gene: FA2H

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74726273G>T , CM000678.2:g.74726273G>T	GRCh38
NC_000016.9:g.74760171G>T , CM000678.1:g.74760171G>T	GRCh37
NC_000016.8:g.73317672G>T	NCBI36
NG_017070.1:g.53559C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219368.8:c.565C>A MANE Select	ENSP00000219368.3:p.Arg189=
ENST00000219368.7:c.565C>A	ENSP00000219368.3:p.Arg189=
ENST00000567683.5:c.364-7113C>A	ENSP00000455126.1:n.364-7113C>A
ENST00000569949.1:c.367C>A	ENSP00000464576.1:p.Arg123=
NM_024306.4:c.565C>A	NP_077282.3:p.Arg189=
XM_011523317.1:c.565C>A	XP_011521619.1:p.Arg189=
XM_011523318.1:c.565C>A	XP_011521620.1:p.Arg189=
XM_011523319.1:c.325C>A	XP_011521621.1:p.Arg109=
XM_011523317.3:c.565C>A	XP_011521619.1:p.Arg189=
XM_011523319.2:c.325C>A	XP_011521621.1:p.Arg109=
NM_024306.5:c.565C>A MANE Select	NP_077282.3:p.Arg189=