Canonical Allele Identifier: CA2232921845
Gene: FA2H HGNC NCBI

Linked Data

dbSNP Id: rs1961618310
gnomAD v4: 16-74713350-T-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74713350T>A , CM000678.2:g.74713350T>A GRCh38
NC_000016.9:g.74747248T>A , CM000678.1:g.74747248T>A GRCh37
NC_000016.8:g.73304749T>A NCBI36
NG_017070.1:g.66482A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.*840A>T MANE Select ENSP00000219368.3:n.*840A>T
ENST00000219368.7:c.*840A>T ENSP00000219368.3:n.*840A>T
ENST00000562145.1:n.1680A>T
NM_024306.4:c.*840A>T NP_077282.3:n.*840A>T
XM_011523319.1:c.*840A>T XP_011521621.1:n.*840A>T
XM_011523319.2:c.*840A>T XP_011521621.1:n.*840A>T
NM_024306.5:c.*840A>T MANE Select NP_077282.3:n.*840A>T
Search 100 bp 5'
Search 100 bp 3'