Canonical Allele Identifier: CA496690743
Gene: FA2H HGNC NCBI

Linked Data

gnomAD v4: 16-74774554-T-G
MyVariant Identifiers: chr16:g.74808452T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74774554T>G , CM000678.2:g.74774554T>G GRCh38
NC_000016.9:g.74808452T>G , CM000678.1:g.74808452T>G GRCh37
NC_000016.8:g.73365953T>G NCBI36
NG_017070.1:g.5278A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.202A>C MANE Select ENSP00000219368.3:p.Arg68=
ENST00000219368.7:c.202A>C ENSP00000219368.3:p.Arg68=
ENST00000567683.5:c.202A>C ENSP00000455126.1:p.Arg68=
NM_024306.4:c.202A>C NP_077282.3:p.Arg68=
XM_011523317.1:c.202A>C XP_011521619.1:p.Arg68=
XM_011523318.1:c.202A>C XP_011521620.1:p.Arg68=
XM_011523317.3:c.202A>C XP_011521619.1:p.Arg68=
NM_024306.5:c.202A>C MANE Select NP_077282.3:p.Arg68=
Search 100 bp 5'
Search 100 bp 3'