Canonical Allele Identifier: CA16609640

Gene: FA2H

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74726249G>A , CM000678.2:g.74726249G>A	GRCh38
NC_000016.9:g.74760147G>A , CM000678.1:g.74760147G>A	GRCh37
NC_000016.8:g.73317648G>A	NCBI36
NG_017070.1:g.53583C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024306.5:c.589C>T MANE Select	NP_077282.3:p.Arg197Ter
ENST00000219368.8:c.589C>T MANE Select	ENSP00000219368.3:p.Arg197Ter
NM_024306.4:c.589C>T	NP_077282.3:p.Arg197Ter
ENST00000219368.7:c.589C>T	ENSP00000219368.3:p.Arg197Ter
ENST00000567683.5:c.364-7089C>T	ENSP00000455126.1:n.364-7089C>T
ENST00000569949.1:c.391C>T	ENSP00000464576.1:p.Arg131Ter
XM_011523317.1:c.589C>T	XP_011521619.1:p.Arg197Ter
XM_011523317.3:c.589C>T	XP_011521619.1:p.Arg197Ter
XM_011523318.1:c.589C>T	XP_011521620.1:p.Arg197Ter
XM_011523319.1:c.349C>T	XP_011521621.1:p.Arg117Ter
XM_011523319.2:c.349C>T	XP_011521621.1:p.Arg117Ter