Canonical Allele Identifier: CA347286387

Gene: NAT8

Linked Data

• MyVariant Identifiers: chr2:g.73868148A>T (hg19) ; chr2:g.73641021A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73641021A>T , CM000664.2:g.73641021A>T	GRCh38
NC_000002.11:g.73868148A>T , CM000664.1:g.73868148A>T	GRCh37
NC_000002.10:g.73721656A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272425.4:c.608T>A MANE Select	ENSP00000272425.3:p.Val203Glu
ENST00000272425.3:c.608T>A	ENSP00000272425.3:p.Val203Glu
NM_003960.3:c.608T>A	NP_003951.3:p.Val203Glu
NM_003960.4:c.608T>A MANE Select	NP_003951.3:p.Val203Glu