Canonical Allele Identifier: CA496690764
Gene: FA2H HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.74808462C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74774564C>G , CM000678.2:g.74774564C>G GRCh38
NC_000016.9:g.74808462C>G , CM000678.1:g.74808462C>G GRCh37
NC_000016.8:g.73365963C>G NCBI36
NG_017070.1:g.5268G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.192G>C MANE Select ENSP00000219368.3:p.Gly64=
ENST00000219368.7:c.192G>C ENSP00000219368.3:p.Gly64=
ENST00000567683.5:c.192G>C ENSP00000455126.1:p.Gly64=
NM_024306.4:c.192G>C NP_077282.3:p.Gly64=
XM_011523317.1:c.192G>C XP_011521619.1:p.Gly64=
XM_011523318.1:c.192G>C XP_011521620.1:p.Gly64=
XM_011523317.3:c.192G>C XP_011521619.1:p.Gly64=
NM_024306.5:c.192G>C MANE Select NP_077282.3:p.Gly64=