Canonical Allele Identifier: CA370635373

Gene: NAT2

Linked Data

• gnomAD v4: 8-18400203-G-A
• COSMIC: COSM313123
• MyVariant Identifiers: chr8:g.18257713G>A (hg19) ; chr8:g.18400203G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18400203G>A , CM000670.2:g.18400203G>A	GRCh38
NC_000008.10:g.18257713G>A , CM000670.1:g.18257713G>A	GRCh37
NC_000008.9:g.18301993G>A	NCBI36
NG_012246.1:g.13959G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286479.4:c.200G>A MANE Select	ENSP00000286479.3:p.Trp67Ter
ENST00000286479.3:c.200G>A	ENSP00000286479.3:p.Trp67Ter
ENST00000520116.1:c.-57-134G>A	ENSP00000428416.1:n.-57-134G>A
NM_000015.2:c.200G>A	NP_000006.2:p.Trp67Ter
XM_011544358.1:c.200G>A	XP_011542660.1:p.Trp67Ter
XM_017012938.1:c.200G>A	XP_016868427.1:p.Trp67Ter
NM_000015.3:c.200G>A MANE Select	NP_000006.2:p.Trp67Ter