Canonical Allele Identifier: CA2232921888
Gene: FA2H HGNC NCBI

Linked Data

dbSNP Id: rs1961619839
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74713415T>C , CM000678.2:g.74713415T>C GRCh38
NC_000016.9:g.74747313T>C , CM000678.1:g.74747313T>C GRCh37
NC_000016.8:g.73304814T>C NCBI36
NG_017070.1:g.66417A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.*775A>G MANE Select ENSP00000219368.3:n.*775A>G
ENST00000219368.7:c.*775A>G ENSP00000219368.3:n.*775A>G
ENST00000562145.1:n.1615A>G
NM_024306.4:c.*775A>G NP_077282.3:n.*775A>G
XM_011523319.1:c.*775A>G XP_011521621.1:n.*775A>G
XM_011523319.2:c.*775A>G XP_011521621.1:n.*775A>G
NM_024306.5:c.*775A>G MANE Select NP_077282.3:n.*775A>G
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