Canonical Allele Identifier: CA8170450

Gene: FA2H

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74719154G>A , CM000678.2:g.74719154G>A	GRCh38
NC_000016.9:g.74753052G>A , CM000678.1:g.74753052G>A	GRCh37
NC_000016.8:g.73310553G>A	NCBI36
NG_017070.1:g.60678C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024306.5:c.620C>T MANE Select	NP_077282.3:p.Thr207Met
ENST00000219368.8:c.620C>T MANE Select	ENSP00000219368.3:p.Thr207Met
NM_024306.4:c.620C>T	NP_077282.3:p.Thr207Met
ENST00000219368.7:c.620C>T	ENSP00000219368.3:p.Thr207Met
ENST00000567683.5:c.370C>T	ENSP00000455126.1:p.Arg124Trp
ENST00000569949.1:c.422C>T	ENSP00000464576.1:p.Thr141Met
XM_011523317.1:c.620C>T	XP_011521619.1:p.Thr207Met
XM_011523317.3:c.620C>T	XP_011521619.1:p.Thr207Met
XM_011523318.1:c.620C>T	XP_011521620.1:p.Thr207Met
XM_011523319.1:c.380C>T	XP_011521621.1:p.Thr127Met
XM_011523319.2:c.380C>T	XP_011521621.1:p.Thr127Met