Canonical Allele Identifier: CA396770244

Gene: FA2H

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74727371G>A , CM000678.2:g.74727371G>A	GRCh38
NC_000016.9:g.74761269G>A , CM000678.1:g.74761269G>A	GRCh37
NC_000016.8:g.73318770G>A	NCBI36
NG_017070.1:g.52461C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024306.5:c.379C>T MANE Select	NP_077282.3:p.Arg127Ter
ENST00000219368.8:c.379C>T MANE Select	ENSP00000219368.3:p.Arg127Ter
NM_024306.4:c.379C>T	NP_077282.3:p.Arg127Ter
ENST00000219368.7:c.379C>T	ENSP00000219368.3:p.Arg127Ter
ENST00000567683.5:c.364-8211C>T	ENSP00000455126.1:n.364-8211C>T
ENST00000569949.1:c.181C>T	ENSP00000464576.1:p.Arg61Ter
XM_011523317.1:c.379C>T	XP_011521619.1:p.Arg127Ter
XM_011523317.3:c.379C>T	XP_011521619.1:p.Arg127Ter
XM_011523318.1:c.379C>T	XP_011521620.1:p.Arg127Ter
XM_011523319.1:c.139C>T	XP_011521621.1:p.Arg47Ter
XM_011523319.2:c.139C>T	XP_011521621.1:p.Arg47Ter