Canonical Allele Identifier: CA496690881
Gene: FA2H HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.74808558G>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74774660G>C , CM000678.2:g.74774660G>C GRCh38
NC_000016.9:g.74808558G>C , CM000678.1:g.74808558G>C GRCh37
NC_000016.8:g.73366059G>C NCBI36
NG_017070.1:g.5172C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.96C>G MANE Select ENSP00000219368.3:p.Arg32=
ENST00000219368.7:c.96C>G ENSP00000219368.3:p.Arg32=
ENST00000567683.5:c.96C>G ENSP00000455126.1:p.Arg32=
NM_024306.4:c.96C>G NP_077282.3:p.Arg32=
XM_011523317.1:c.96C>G XP_011521619.1:p.Arg32=
XM_011523318.1:c.96C>G XP_011521620.1:p.Arg32=
XM_011523317.3:c.96C>G XP_011521619.1:p.Arg32=
NM_024306.5:c.96C>G MANE Select NP_077282.3:p.Arg32=
Search 100 bp 5'
Search 100 bp 3'