Canonical Allele Identifier: CA2634286655
Gene: FA2H HGNC NCBI

Linked Data

gnomAD v4: 16-74713557-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74713557T>C , CM000678.2:g.74713557T>C GRCh38
NC_000016.9:g.74747455T>C , CM000678.1:g.74747455T>C GRCh37
NC_000016.8:g.73304956T>C NCBI36
NG_017070.1:g.66275A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.*633A>G MANE Select ENSP00000219368.3:n.*633A>G
ENST00000219368.7:c.*633A>G ENSP00000219368.3:n.*633A>G
ENST00000562145.1:n.1473A>G
NM_024306.4:c.*633A>G NP_077282.3:n.*633A>G
XM_011523319.1:c.*633A>G XP_011521621.1:n.*633A>G
XM_011523319.2:c.*633A>G XP_011521621.1:n.*633A>G
NM_024306.5:c.*633A>G MANE Select NP_077282.3:n.*633A>G
Search 100 bp 5'
Search 100 bp 3'