Canonical Allele Identifier: CA396768357
Gene: FA2H HGNC NCBI

Linked Data

gnomAD v4: 16-74774627-G-C
MyVariant Identifiers: chr16:g.74808525G>C (hg19) chr16:g.74774627G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74774627G>C , CM000678.2:g.74774627G>C GRCh38
NC_000016.9:g.74808525G>C , CM000678.1:g.74808525G>C GRCh37
NC_000016.8:g.73366026G>C NCBI36
NG_017070.1:g.5205C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.129C>G MANE Select ENSP00000219368.3:p.His43Gln
ENST00000219368.7:c.129C>G ENSP00000219368.3:p.His43Gln
ENST00000567683.5:c.129C>G ENSP00000455126.1:p.His43Gln
NM_024306.4:c.129C>G NP_077282.3:p.His43Gln
XM_011523317.1:c.129C>G XP_011521619.1:p.His43Gln
XM_011523318.1:c.129C>G XP_011521620.1:p.His43Gln
XM_011523317.3:c.129C>G XP_011521619.1:p.His43Gln
NM_024306.5:c.129C>G MANE Select NP_077282.3:p.His43Gln
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