Canonical Allele Identifier: CA2232921864
Gene: FA2H HGNC NCBI

Linked Data

dbSNP Id: rs1597535502
gnomAD v4: 16-74713376-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74713376T>G , CM000678.2:g.74713376T>G GRCh38
NC_000016.9:g.74747274T>G , CM000678.1:g.74747274T>G GRCh37
NC_000016.8:g.73304775T>G NCBI36
NG_017070.1:g.66456A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.*814A>C MANE Select ENSP00000219368.3:n.*814A>C
ENST00000219368.7:c.*814A>C ENSP00000219368.3:n.*814A>C
ENST00000562145.1:n.1654A>C
NM_024306.4:c.*814A>C NP_077282.3:n.*814A>C
XM_011523319.1:c.*814A>C XP_011521621.1:n.*814A>C
XM_011523319.2:c.*814A>C XP_011521621.1:n.*814A>C
NM_024306.5:c.*814A>C MANE Select NP_077282.3:n.*814A>C
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