Canonical Allele Identifier: CA396769979

Gene: FA2H

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74727243C>G , CM000678.2:g.74727243C>G	GRCh38
NC_000016.9:g.74761141C>G , CM000678.1:g.74761141C>G	GRCh37
NC_000016.8:g.73318642C>G	NCBI36
NG_017070.1:g.52589G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024306.5:c.506+1G>C MANE Select	NP_077282.3:n.506+1G>C
ENST00000219368.8:c.506+1G>C MANE Select	ENSP00000219368.3:n.506+1G>C
NM_024306.4:c.506+1G>C	NP_077282.3:n.506+1G>C
ENST00000219368.7:c.506+1G>C	ENSP00000219368.3:n.506+1G>C
ENST00000567683.5:c.364-8083G>C	ENSP00000455126.1:n.364-8083G>C
ENST00000569949.1:c.308+1G>C	ENSP00000464576.1:n.308+1G>C
XM_011523317.1:c.506+1G>C	XP_011521619.1:n.506+1G>C
XM_011523317.3:c.506+1G>C	XP_011521619.1:n.506+1G>C
XM_011523318.1:c.506+1G>C	XP_011521620.1:n.506+1G>C
XM_011523319.1:c.266+1G>C	XP_011521621.1:n.266+1G>C
XM_011523319.2:c.266+1G>C	XP_011521621.1:n.266+1G>C