Canonical Allele Identifier: CA2634286290
Gene: FA2H HGNC NCBI

Linked Data

gnomAD v4: 16-74713357-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74713357G>T , CM000678.2:g.74713357G>T GRCh38
NC_000016.9:g.74747255G>T , CM000678.1:g.74747255G>T GRCh37
NC_000016.8:g.73304756G>T NCBI36
NG_017070.1:g.66475C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.*833C>A MANE Select ENSP00000219368.3:n.*833C>A
ENST00000219368.7:c.*833C>A ENSP00000219368.3:n.*833C>A
ENST00000562145.1:n.1673C>A
NM_024306.4:c.*833C>A NP_077282.3:n.*833C>A
XM_011523319.1:c.*833C>A XP_011521621.1:n.*833C>A
XM_011523319.2:c.*833C>A XP_011521621.1:n.*833C>A
NM_024306.5:c.*833C>A MANE Select NP_077282.3:n.*833C>A
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