Canonical Allele Identifier: CA2232953567
Gene: FA2H HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74718992T= , CM000678.2:g.74718992T= GRCh38
NC_000016.9:g.74752890T= , CM000678.1:g.74752890T= GRCh37
NC_000016.8:g.73310391T= NCBI36
NG_017070.1:g.60840A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.782A= MANE Select ENSP00000219368.3:p.His261=
ENST00000219368.7:c.782A= ENSP00000219368.3:p.His261=
ENST00000567683.5:c.*61A= ENSP00000455126.1:n.*61A=
NM_024306.4:c.782A= NP_077282.3:p.His261=
XM_011523317.1:c.782A= XP_011521619.1:p.His261=
XM_011523318.1:c.782A= XP_011521620.1:p.His261=
XM_011523319.1:c.542A= XP_011521621.1:p.His181=
XM_011523317.3:c.782A= XP_011521619.1:p.His261=
XM_011523319.2:c.542A= XP_011521621.1:p.His181=
NM_024306.5:c.782A= MANE Select NP_077282.3:p.His261=