Canonical Allele Identifier: CA1715659

Gene: NAT8

Linked Data

• dbSNP Id: rs566417657
• ExAC: 2:73868184 A / G
• gnomAD v2: 2-73868184-A-G
• gnomAD v3: 2-73641057-A-G
• gnomAD v4: 2-73641057-A-G
• MyVariant Identifiers: chr2:g.73868184A>G (hg19) ; chr2:g.73641057A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73641057A>G , CM000664.2:g.73641057A>G	GRCh38
NC_000002.11:g.73868184A>G , CM000664.1:g.73868184A>G	GRCh37
NC_000002.10:g.73721692A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272425.4:c.572T>C MANE Select	ENSP00000272425.3:p.Met191Thr
ENST00000272425.3:c.572T>C	ENSP00000272425.3:p.Met191Thr
NM_003960.3:c.572T>C	NP_003951.3:p.Met191Thr
NM_003960.4:c.572T>C MANE Select	NP_003951.3:p.Met191Thr