Canonical Allele Identifier: CA8170411

Gene: FA2H

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74718989T>G , CM000678.2:g.74718989T>G	GRCh38
NC_000016.9:g.74752887T>G , CM000678.1:g.74752887T>G	GRCh37
NC_000016.8:g.73310388T>G	NCBI36
NG_017070.1:g.60843A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024306.5:c.785A>C MANE Select	NP_077282.3:p.Lys262Thr
ENST00000219368.8:c.785A>C MANE Select	ENSP00000219368.3:p.Lys262Thr
NM_024306.4:c.785A>C	NP_077282.3:p.Lys262Thr
ENST00000219368.7:c.785A>C	ENSP00000219368.3:p.Lys262Thr
ENST00000567683.5:c.*64A>C	ENSP00000455126.1:n.*64A>C
XM_011523317.1:c.785A>C	XP_011521619.1:p.Lys262Thr
XM_011523317.3:c.785A>C	XP_011521619.1:p.Lys262Thr
XM_011523318.1:c.785A>C	XP_011521620.1:p.Lys262Thr
XM_011523319.1:c.545A>C	XP_011521621.1:p.Lys182Thr
XM_011523319.2:c.545A>C	XP_011521621.1:p.Lys182Thr