Canonical Allele Identifier: CA396769346

Gene: FA2H

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74718987C>T , CM000678.2:g.74718987C>T	GRCh38
NC_000016.9:g.74752885C>T , CM000678.1:g.74752885C>T	GRCh37
NC_000016.8:g.73310386C>T	NCBI36
NG_017070.1:g.60845G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024306.5:c.786+1G>A MANE Select	NP_077282.3:n.786+1G>A
ENST00000219368.8:c.786+1G>A MANE Select	ENSP00000219368.3:n.786+1G>A
NM_024306.4:c.786+1G>A	NP_077282.3:n.786+1G>A
ENST00000219368.7:c.786+1G>A	ENSP00000219368.3:n.786+1G>A
ENST00000567683.5:c.*65+1G>A	ENSP00000455126.1:n.*65+1G>A
XM_011523317.1:c.786+1G>A	XP_011521619.1:n.786+1G>A
XM_011523317.3:c.786+1G>A	XP_011521619.1:n.786+1G>A
XM_011523318.1:c.786+1G>A	XP_011521620.1:n.786+1G>A
XM_011523319.1:c.546+1G>A	XP_011521621.1:n.546+1G>A
XM_011523319.2:c.546+1G>A	XP_011521621.1:n.546+1G>A