Canonical Allele Identifier: CA2634286733
Gene: FA2H HGNC NCBI

Linked Data

gnomAD v4: 16-74713614-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74713614G>T , CM000678.2:g.74713614G>T GRCh38
NC_000016.9:g.74747512G>T , CM000678.1:g.74747512G>T GRCh37
NC_000016.8:g.73305013G>T NCBI36
NG_017070.1:g.66218C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.*576C>A MANE Select ENSP00000219368.3:n.*576C>A
ENST00000219368.7:c.*576C>A ENSP00000219368.3:n.*576C>A
ENST00000562145.1:n.1416C>A
ENST00000567683.5:c.*974C>A ENSP00000455126.1:n.*974C>A
NM_024306.4:c.*576C>A NP_077282.3:n.*576C>A
XM_011523319.1:c.*576C>A XP_011521621.1:n.*576C>A
XM_011523319.2:c.*576C>A XP_011521621.1:n.*576C>A
NM_024306.5:c.*576C>A MANE Select NP_077282.3:n.*576C>A
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