Canonical Allele Identifier: CA396768427
Gene: FA2H HGNC NCBI

Linked Data

gnomAD v4: 16-74774659-G-T
MyVariant Identifiers: chr16:g.74808557G>T (hg19) chr16:g.74774659G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74774659G>T , CM000678.2:g.74774659G>T GRCh38
NC_000016.9:g.74808557G>T , CM000678.1:g.74808557G>T GRCh37
NC_000016.8:g.73366058G>T NCBI36
NG_017070.1:g.5173C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000219368.8:c.97C>A MANE Select ENSP00000219368.3:p.Leu33Ile
ENST00000219368.7:c.97C>A ENSP00000219368.3:p.Leu33Ile
ENST00000567683.5:c.97C>A ENSP00000455126.1:p.Leu33Ile
NM_024306.4:c.97C>A NP_077282.3:p.Leu33Ile
XM_011523317.1:c.97C>A XP_011521619.1:p.Leu33Ile
XM_011523318.1:c.97C>A XP_011521620.1:p.Leu33Ile
XM_011523317.3:c.97C>A XP_011521619.1:p.Leu33Ile
NM_024306.5:c.97C>A MANE Select NP_077282.3:p.Leu33Ile
Search 100 bp 5'
Search 100 bp 3'