Canonical Allele Identifier: CA1715634

Gene: NAT8

Linked Data

• dbSNP Id: rs200757014
• ExAC: 2:73868094 G / T
• gnomAD v2: 2-73868094-G-T
• gnomAD v3: 2-73640967-G-T
• gnomAD v4: 2-73640967-G-T
• MyVariant Identifiers: chr2:g.73868094G>T (hg19) ; chr2:g.73640967G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73640967G>T , CM000664.2:g.73640967G>T	GRCh38
NC_000002.11:g.73868094G>T , CM000664.1:g.73868094G>T	GRCh37
NC_000002.10:g.73721602G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272425.4:c.662C>A MANE Select	ENSP00000272425.3:p.Ser221Tyr
ENST00000272425.3:c.662C>A	ENSP00000272425.3:p.Ser221Tyr
NM_003960.3:c.662C>A	NP_003951.3:p.Ser221Tyr
NM_003960.4:c.662C>A MANE Select	NP_003951.3:p.Ser221Tyr