Canonical Allele Identifier: CA8170623
Gene: FA2H HGNC NCBI

Linked Data

dbSNP Id: rs778018677
ExAC: 16:74808492 C / T
gnomAD v2: 16-74808492-C-T
gnomAD v3: 16-74774594-C-T
gnomAD v4: 16-74774594-C-T
MyVariant Identifiers: chr16:g.74808492C>T (hg19) chr16:g.74774594C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74774594C>T , CM000678.2:g.74774594C>T GRCh38
NC_000016.9:g.74808492C>T , CM000678.1:g.74808492C>T GRCh37
NC_000016.8:g.73365993C>T NCBI36
NG_017070.1:g.5238G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.162G>A MANE Select ENSP00000219368.3:p.Ala54=
ENST00000219368.7:c.162G>A ENSP00000219368.3:p.Ala54=
ENST00000567683.5:c.162G>A ENSP00000455126.1:p.Ala54=
NM_024306.4:c.162G>A NP_077282.3:p.Ala54=
XM_011523317.1:c.162G>A XP_011521619.1:p.Ala54=
XM_011523318.1:c.162G>A XP_011521620.1:p.Ala54=
XM_011523317.3:c.162G>A XP_011521619.1:p.Ala54=
NM_024306.5:c.162G>A MANE Select NP_077282.3:p.Ala54=
Search 100 bp 5'
Search 100 bp 3'