Canonical Allele Identifier: CA8170484
Gene: FA2H HGNC NCBI

Linked Data

ClinVar Variation Id: 320496
dbSNP Id: rs138892784

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74726268G>T , CM000678.2:g.74726268G>T GRCh38
NC_000016.9:g.74760166G>T , CM000678.1:g.74760166G>T GRCh37
NC_000016.8:g.73317667G>T NCBI36
NG_017070.1:g.53564C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.570C>A MANE Select ENSP00000219368.3:p.Thr190=
ENST00000219368.7:c.570C>A ENSP00000219368.3:p.Thr190=
ENST00000567683.5:c.364-7108C>A ENSP00000455126.1:n.364-7108C>A
ENST00000569949.1:c.372C>A ENSP00000464576.1:p.Thr124=
NM_024306.4:c.570C>A NP_077282.3:p.Thr190=
XM_011523317.1:c.570C>A XP_011521619.1:p.Thr190=
XM_011523318.1:c.570C>A XP_011521620.1:p.Thr190=
XM_011523319.1:c.330C>A XP_011521621.1:p.Thr110=
XM_011523317.3:c.570C>A XP_011521619.1:p.Thr190=
XM_011523319.2:c.330C>A XP_011521621.1:p.Thr110=
NM_024306.5:c.570C>A MANE Select NP_077282.3:p.Thr190=