Canonical Allele Identifier: CA2634286507
Gene: FA2H HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74713464G>C , CM000678.2:g.74713464G>C GRCh38
NC_000016.9:g.74747362G>C , CM000678.1:g.74747362G>C GRCh37
NC_000016.8:g.73304863G>C NCBI36
NG_017070.1:g.66368C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.*726C>G MANE Select ENSP00000219368.3:n.*726C>G
ENST00000219368.7:c.*726C>G ENSP00000219368.3:n.*726C>G
ENST00000562145.1:n.1566C>G
NM_024306.4:c.*726C>G NP_077282.3:n.*726C>G
XM_011523319.1:c.*726C>G XP_011521621.1:n.*726C>G
XM_011523319.2:c.*726C>G XP_011521621.1:n.*726C>G
NM_024306.5:c.*726C>G MANE Select NP_077282.3:n.*726C>G