Canonical Allele Identifier: CA347286177

Gene: NAT8

Linked Data

• dbSNP Id: rs1265704744
• gnomAD v4: 2-73640991-A-G
• MyVariant Identifiers: chr2:g.73868118A>G (hg19) ; chr2:g.73640991A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73640991A>G , CM000664.2:g.73640991A>G	GRCh38
NC_000002.11:g.73868118A>G , CM000664.1:g.73868118A>G	GRCh37
NC_000002.10:g.73721626A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272425.4:c.638T>C MANE Select	ENSP00000272425.3:p.Val213Ala
ENST00000272425.3:c.638T>C	ENSP00000272425.3:p.Val213Ala
NM_003960.3:c.638T>C	NP_003951.3:p.Val213Ala
NM_003960.4:c.638T>C MANE Select	NP_003951.3:p.Val213Ala