Canonical Allele Identifier: CA396769602

Gene: FA2H

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74719100A>G , CM000678.2:g.74719100A>G	GRCh38
NC_000016.9:g.74752998A>G , CM000678.1:g.74752998A>G	GRCh37
NC_000016.8:g.73310499A>G	NCBI36
NG_017070.1:g.60732T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024306.5:c.674T>C MANE Select	NP_077282.3:p.Leu225Pro
ENST00000219368.8:c.674T>C MANE Select	ENSP00000219368.3:p.Leu225Pro
NM_024306.4:c.674T>C	NP_077282.3:p.Leu225Pro
ENST00000219368.7:c.674T>C	ENSP00000219368.3:p.Leu225Pro
ENST00000567683.5:c.424T>C	ENSP00000455126.1:p.Ser142Pro
ENST00000569949.1:c.476T>C	ENSP00000464576.1:p.Leu159Pro
XM_011523317.1:c.674T>C	XP_011521619.1:p.Leu225Pro
XM_011523317.3:c.674T>C	XP_011521619.1:p.Leu225Pro
XM_011523318.1:c.674T>C	XP_011521620.1:p.Leu225Pro
XM_011523319.1:c.434T>C	XP_011521621.1:p.Leu145Pro
XM_011523319.2:c.434T>C	XP_011521621.1:p.Leu145Pro