Canonical Allele Identifier: CA2634286626
Gene: FA2H HGNC NCBI

Linked Data

gnomAD v4: 16-74713542-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74713542A>C , CM000678.2:g.74713542A>C GRCh38
NC_000016.9:g.74747440A>C , CM000678.1:g.74747440A>C GRCh37
NC_000016.8:g.73304941A>C NCBI36
NG_017070.1:g.66290T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.*648T>G MANE Select ENSP00000219368.3:n.*648T>G
ENST00000219368.7:c.*648T>G ENSP00000219368.3:n.*648T>G
ENST00000562145.1:n.1488T>G
NM_024306.4:c.*648T>G NP_077282.3:n.*648T>G
XM_011523319.1:c.*648T>G XP_011521621.1:n.*648T>G
XM_011523319.2:c.*648T>G XP_011521621.1:n.*648T>G
NM_024306.5:c.*648T>G MANE Select NP_077282.3:n.*648T>G
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