Canonical Allele Identifier: CA2232921832
Gene: FA2H HGNC NCBI

Linked Data

dbSNP Id: rs1961617735
gnomAD v4: 16-74713326-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74713326G>A , CM000678.2:g.74713326G>A GRCh38
NC_000016.9:g.74747224G>A , CM000678.1:g.74747224G>A GRCh37
NC_000016.8:g.73304725G>A NCBI36
NG_017070.1:g.66506C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.*864C>T MANE Select ENSP00000219368.3:n.*864C>T
ENST00000219368.7:c.*864C>T ENSP00000219368.3:n.*864C>T
ENST00000562145.1:n.1704C>T
NM_024306.4:c.*864C>T NP_077282.3:n.*864C>T
XM_011523319.1:c.*864C>T XP_011521621.1:n.*864C>T
XM_011523319.2:c.*864C>T XP_011521621.1:n.*864C>T
NM_024306.5:c.*864C>T MANE Select NP_077282.3:n.*864C>T
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