Canonical Allele Identifier: CA16615007

Gene: FA2H

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74727307G>A , CM000678.2:g.74727307G>A	GRCh38
NC_000016.9:g.74761205G>A , CM000678.1:g.74761205G>A	GRCh37
NC_000016.8:g.73318706G>A	NCBI36
NG_017070.1:g.52525C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219368.8:c.443C>T MANE Select	ENSP00000219368.3:p.Pro148Leu
ENST00000219368.7:c.443C>T	ENSP00000219368.3:p.Pro148Leu
ENST00000567683.5:c.364-8147C>T	ENSP00000455126.1:n.364-8147C>T
ENST00000569949.1:c.245C>T	ENSP00000464576.1:p.Pro82Leu
NM_024306.4:c.443C>T	NP_077282.3:p.Pro148Leu
XM_011523317.1:c.443C>T	XP_011521619.1:p.Pro148Leu
XM_011523318.1:c.443C>T	XP_011521620.1:p.Pro148Leu
XM_011523319.1:c.203C>T	XP_011521621.1:p.Pro68Leu
XM_011523317.3:c.443C>T	XP_011521619.1:p.Pro148Leu
XM_011523319.2:c.203C>T	XP_011521621.1:p.Pro68Leu
NM_024306.5:c.443C>T MANE Select	NP_077282.3:p.Pro148Leu