Canonical Allele Identifier: CA2232965498

Gene: FA2H

Genomic Alleles

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

Transcript Alleles

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