Canonical Allele Identifier: CA2634286357
Gene: FA2H HGNC NCBI

Linked Data

gnomAD v4: 16-74713377-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74713377G>C , CM000678.2:g.74713377G>C GRCh38
NC_000016.9:g.74747275G>C , CM000678.1:g.74747275G>C GRCh37
NC_000016.8:g.73304776G>C NCBI36
NG_017070.1:g.66455C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.*813C>G MANE Select ENSP00000219368.3:n.*813C>G
ENST00000219368.7:c.*813C>G ENSP00000219368.3:n.*813C>G
ENST00000562145.1:n.1653C>G
NM_024306.4:c.*813C>G NP_077282.3:n.*813C>G
XM_011523319.1:c.*813C>G XP_011521621.1:n.*813C>G
XM_011523319.2:c.*813C>G XP_011521621.1:n.*813C>G
NM_024306.5:c.*813C>G MANE Select NP_077282.3:n.*813C>G
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