Canonical Allele Identifier: CA396768335
Gene: FA2H HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74774616T>G , CM000678.2:g.74774616T>G GRCh38
NC_000016.9:g.74808514T>G , CM000678.1:g.74808514T>G GRCh37
NC_000016.8:g.73366015T>G NCBI36
NG_017070.1:g.5216A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.140A>C MANE Select ENSP00000219368.3:p.Glu47Ala
ENST00000219368.7:c.140A>C ENSP00000219368.3:p.Glu47Ala
ENST00000567683.5:c.140A>C ENSP00000455126.1:p.Glu47Ala
NM_024306.4:c.140A>C NP_077282.3:p.Glu47Ala
XM_011523317.1:c.140A>C XP_011521619.1:p.Glu47Ala
XM_011523318.1:c.140A>C XP_011521620.1:p.Glu47Ala
XM_011523317.3:c.140A>C XP_011521619.1:p.Glu47Ala
NM_024306.5:c.140A>C MANE Select NP_077282.3:p.Glu47Ala