Canonical Allele Identifier: CA1715654
Gene: NAT8 HGNC NCBI

Linked Data

dbSNP Id: rs758261249
gnomAD v2: 2-73868152-A-G
gnomAD v3: 2-73641025-A-G
gnomAD v4: 2-73641025-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73641025A>G , CM000664.2:g.73641025A>G GRCh38
NC_000002.11:g.73868152A>G , CM000664.1:g.73868152A>G GRCh37
NC_000002.10:g.73721660A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.604T>C MANE Select ENSP00000272425.3:p.Cys202Arg
ENST00000272425.3:c.604T>C ENSP00000272425.3:p.Cys202Arg
NM_003960.3:c.604T>C NP_003951.3:p.Cys202Arg
NM_003960.4:c.604T>C MANE Select NP_003951.3:p.Cys202Arg