Canonical Allele Identifier: CA2232965638

Gene: FA2H

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74726321G= , CM000678.2:g.74726321G=	GRCh38
NC_000016.9:g.74760219G= , CM000678.1:g.74760219G=	GRCh37
NC_000016.8:g.73317720G=	NCBI36
NG_017070.1:g.53511C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219368.8:c.517C= MANE Select	ENSP00000219368.3:p.Pro173=
ENST00000219368.7:c.517C=	ENSP00000219368.3:p.Pro173=
ENST00000567683.5:c.364-7161C=	ENSP00000455126.1:n.364-7161C=
ENST00000569949.1:c.319C=	ENSP00000464576.1:p.Pro107=
NM_024306.4:c.517C=	NP_077282.3:p.Pro173=
XM_011523317.1:c.517C=	XP_011521619.1:p.Pro173=
XM_011523318.1:c.517C=	XP_011521620.1:p.Pro173=
XM_011523319.1:c.277C=	XP_011521621.1:p.Pro93=
XM_011523317.3:c.517C=	XP_011521619.1:p.Pro173=
XM_011523319.2:c.277C=	XP_011521621.1:p.Pro93=
NM_024306.5:c.517C= MANE Select	NP_077282.3:p.Pro173=