Canonical Allele Identifier: CA849434128

Gene: NAT2

Linked Data

• dbSNP Id: rs1359979948
• gnomAD v3: 8-18393582-C-T
• gnomAD v4: 8-18393582-C-T
• MyVariant Identifiers: chr8:g.18251092C>T (hg19) ; chr8:g.18393582C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18393582C>T , CM000670.2:g.18393582C>T	GRCh38
NC_000008.10:g.18251092C>T , CM000670.1:g.18251092C>T	GRCh37
NC_000008.9:g.18295372C>T	NCBI36
NG_012246.1:g.7338C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286479.4:c.-7+2237C>T MANE Select	ENSP00000286479.3:n.-7+2237C>T
ENST00000286479.3:c.-7+2237C>T	ENSP00000286479.3:n.-7+2237C>T
ENST00000520116.1:c.-58+2237C>T	ENSP00000428416.1:n.-58+2237C>T
NM_000015.2:c.-7+2237C>T	NP_000006.2:n.-7+2237C>T
XM_011544358.1:c.-7+846C>T	XP_011542660.1:n.-7+846C>T
XM_017012938.1:c.-6-6416C>T	XP_016868427.1:n.-6-6416C>T
NM_000015.3:c.-7+2237C>T MANE Select	NP_000006.2:n.-7+2237C>T