Canonical Allele Identifier: CA173519950

Gene: NAT2

Linked Data

• dbSNP Id: rs1056793005
• COSMIC: COSM4396995
• MyVariant Identifiers: chr8:g.18258356C>T (hg19) ; chr8:g.18400846C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18400846C>T , CM000670.2:g.18400846C>T	GRCh38
NC_000008.10:g.18258356C>T , CM000670.1:g.18258356C>T	GRCh37
NC_000008.9:g.18302636C>T	NCBI36
NG_012246.1:g.14602C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286479.4:c.843C>T MANE Select	ENSP00000286479.3:p.Pro281=
ENST00000286479.3:c.843C>T	ENSP00000286479.3:p.Pro281=
ENST00000520116.1:c.453C>T	ENSP00000428416.1:p.Pro151=
NM_000015.2:c.843C>T	NP_000006.2:p.Pro281=
XM_011544358.1:c.843C>T	XP_011542660.1:p.Pro281=
XM_017012938.1:c.843C>T	XP_016868427.1:p.Pro281=
NM_000015.3:c.843C>T MANE Select	NP_000006.2:p.Pro281=