Canonical Allele Identifier: CA396768354

Gene: FA2H

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74774626G>A , CM000678.2:g.74774626G>A	GRCh38
NC_000016.9:g.74808524G>A , CM000678.1:g.74808524G>A	GRCh37
NC_000016.8:g.73366025G>A	NCBI36
NG_017070.1:g.5206C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024306.5:c.130C>T MANE Select	NP_077282.3:p.Pro44Ser
ENST00000219368.8:c.130C>T MANE Select	ENSP00000219368.3:p.Pro44Ser
NM_024306.4:c.130C>T	NP_077282.3:p.Pro44Ser
ENST00000219368.7:c.130C>T	ENSP00000219368.3:p.Pro44Ser
ENST00000567683.5:c.130C>T	ENSP00000455126.1:p.Pro44Ser
XM_011523317.1:c.130C>T	XP_011521619.1:p.Pro44Ser
XM_011523317.3:c.130C>T	XP_011521619.1:p.Pro44Ser
XM_011523318.1:c.130C>T	XP_011521620.1:p.Pro44Ser