Canonical Allele Identifier: CA347286705
Gene: NAT8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73641060C>T , CM000664.2:g.73641060C>T GRCh38
NC_000002.11:g.73868187C>T , CM000664.1:g.73868187C>T GRCh37
NC_000002.10:g.73721695C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.569G>A MANE Select ENSP00000272425.3:p.Ser190Asn
ENST00000272425.3:c.569G>A ENSP00000272425.3:p.Ser190Asn
NM_003960.3:c.569G>A NP_003951.3:p.Ser190Asn
NM_003960.4:c.569G>A MANE Select NP_003951.3:p.Ser190Asn