Canonical Allele Identifier: CA2634286615
Gene: FA2H HGNC NCBI

Linked Data

gnomAD v4: 16-74713539-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74713539G>T , CM000678.2:g.74713539G>T GRCh38
NC_000016.9:g.74747437G>T , CM000678.1:g.74747437G>T GRCh37
NC_000016.8:g.73304938G>T NCBI36
NG_017070.1:g.66293C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.*651C>A MANE Select ENSP00000219368.3:n.*651C>A
ENST00000219368.7:c.*651C>A ENSP00000219368.3:n.*651C>A
ENST00000562145.1:n.1491C>A
NM_024306.4:c.*651C>A NP_077282.3:n.*651C>A
XM_011523319.1:c.*651C>A XP_011521621.1:n.*651C>A
XM_011523319.2:c.*651C>A XP_011521621.1:n.*651C>A
NM_024306.5:c.*651C>A MANE Select NP_077282.3:n.*651C>A
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