Canonical Allele Identifier: CA347286187

Gene: NAT8

Linked Data

• MyVariant Identifiers: chr2:g.73868119C>G (hg19) ; chr2:g.73640992C>G (hg38)

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