Canonical Allele Identifier: CA347286187
Gene: NAT8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73640992C>G , CM000664.2:g.73640992C>G GRCh38
NC_000002.11:g.73868119C>G , CM000664.1:g.73868119C>G GRCh37
NC_000002.10:g.73721627C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.637G>C MANE Select ENSP00000272425.3:p.Val213Leu
ENST00000272425.3:c.637G>C ENSP00000272425.3:p.Val213Leu
NM_003960.3:c.637G>C NP_003951.3:p.Val213Leu
NM_003960.4:c.637G>C MANE Select NP_003951.3:p.Val213Leu