Canonical Allele Identifier: CA396768223
Gene: FA2H HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74774563G>T , CM000678.2:g.74774563G>T GRCh38
NC_000016.9:g.74808461G>T , CM000678.1:g.74808461G>T GRCh37
NC_000016.8:g.73365962G>T NCBI36
NG_017070.1:g.5269C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.193C>A MANE Select ENSP00000219368.3:p.Pro65Thr
ENST00000219368.7:c.193C>A ENSP00000219368.3:p.Pro65Thr
ENST00000567683.5:c.193C>A ENSP00000455126.1:p.Pro65Thr
NM_024306.4:c.193C>A NP_077282.3:p.Pro65Thr
XM_011523317.1:c.193C>A XP_011521619.1:p.Pro65Thr
XM_011523318.1:c.193C>A XP_011521620.1:p.Pro65Thr
XM_011523317.3:c.193C>A XP_011521619.1:p.Pro65Thr
NM_024306.5:c.193C>A MANE Select NP_077282.3:p.Pro65Thr