Canonical Allele Identifier: CA1715663

Gene: NAT8

Linked Data

• dbSNP Id: rs764421364
• ExAC: 2:73868197 G / C
• MyVariant Identifiers: chr2:g.73868197G>C (hg19) ; chr2:g.73641070G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73641070G>C , CM000664.2:g.73641070G>C	GRCh38
NC_000002.11:g.73868197G>C , CM000664.1:g.73868197G>C	GRCh37
NC_000002.10:g.73721705G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272425.4:c.559C>G MANE Select	ENSP00000272425.3:p.Leu187Val
ENST00000272425.3:c.559C>G	ENSP00000272425.3:p.Leu187Val
NM_003960.3:c.559C>G	NP_003951.3:p.Leu187Val
NM_003960.4:c.559C>G MANE Select	NP_003951.3:p.Leu187Val