Canonical Allele Identifier: CA396768438
Gene: FA2H HGNC NCBI

Linked Data

gnomAD v4: 16-74774665-C-G
MyVariant Identifiers: chr16:g.74808563C>G (hg19) chr16:g.74774665C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74774665C>G , CM000678.2:g.74774665C>G GRCh38
NC_000016.9:g.74808563C>G , CM000678.1:g.74808563C>G GRCh37
NC_000016.8:g.73366064C>G NCBI36
NG_017070.1:g.5167G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000219368.8:c.91G>C MANE Select ENSP00000219368.3:p.Ala31Pro
ENST00000219368.7:c.91G>C ENSP00000219368.3:p.Ala31Pro
ENST00000567683.5:c.91G>C ENSP00000455126.1:p.Ala31Pro
NM_024306.4:c.91G>C NP_077282.3:p.Ala31Pro
XM_011523317.1:c.91G>C XP_011521619.1:p.Ala31Pro
XM_011523318.1:c.91G>C XP_011521620.1:p.Ala31Pro
XM_011523317.3:c.91G>C XP_011521619.1:p.Ala31Pro
NM_024306.5:c.91G>C MANE Select NP_077282.3:p.Ala31Pro
Search 100 bp 5'
Search 100 bp 3'