Canonical Allele Identifier: CA2634286730
Gene: FA2H HGNC NCBI

Linked Data

gnomAD v4: 16-74713612-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74713612C>T , CM000678.2:g.74713612C>T GRCh38
NC_000016.9:g.74747510C>T , CM000678.1:g.74747510C>T GRCh37
NC_000016.8:g.73305011C>T NCBI36
NG_017070.1:g.66220G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.*578G>A MANE Select ENSP00000219368.3:n.*578G>A
ENST00000219368.7:c.*578G>A ENSP00000219368.3:n.*578G>A
ENST00000562145.1:n.1418G>A
ENST00000567683.5:c.*976G>A ENSP00000455126.1:n.*976G>A
NM_024306.4:c.*578G>A NP_077282.3:n.*578G>A
XM_011523319.1:c.*578G>A XP_011521621.1:n.*578G>A
XM_011523319.2:c.*578G>A XP_011521621.1:n.*578G>A
NM_024306.5:c.*578G>A MANE Select NP_077282.3:n.*578G>A
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