Canonical Allele Identifier: CA347286013

Gene: NAT8

Linked Data

• MyVariant Identifiers: chr2:g.73868086C>G (hg19) ; chr2:g.73640959C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73640959C>G , CM000664.2:g.73640959C>G	GRCh38
NC_000002.11:g.73868086C>G , CM000664.1:g.73868086C>G	GRCh37
NC_000002.10:g.73721594C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272425.4:c.670G>C MANE Select	ENSP00000272425.3:p.Val224Leu
ENST00000272425.3:c.670G>C	ENSP00000272425.3:p.Val224Leu
NM_003960.3:c.670G>C	NP_003951.3:p.Val224Leu
NM_003960.4:c.670G>C MANE Select	NP_003951.3:p.Val224Leu