Canonical Allele Identifier: CA849434085

Gene: NAT2

Linked Data

• dbSNP Id: rs1424391860
• gnomAD v3: 8-18393557-T-C
• gnomAD v4: 8-18393557-T-C
• MyVariant Identifiers: chr8:g.18251067T>C (hg19) ; chr8:g.18393557T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18393557T>C , CM000670.2:g.18393557T>C	GRCh38
NC_000008.10:g.18251067T>C , CM000670.1:g.18251067T>C	GRCh37
NC_000008.9:g.18295347T>C	NCBI36
NG_012246.1:g.7313T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286479.4:c.-7+2212T>C MANE Select	ENSP00000286479.3:n.-7+2212T>C
ENST00000286479.3:c.-7+2212T>C	ENSP00000286479.3:n.-7+2212T>C
ENST00000520116.1:c.-58+2212T>C	ENSP00000428416.1:n.-58+2212T>C
NM_000015.2:c.-7+2212T>C	NP_000006.2:n.-7+2212T>C
XM_011544358.1:c.-7+821T>C	XP_011542660.1:n.-7+821T>C
XM_017012938.1:c.-6-6441T>C	XP_016868427.1:n.-6-6441T>C
NM_000015.3:c.-7+2212T>C MANE Select	NP_000006.2:n.-7+2212T>C