Canonical Allele Identifier: CA173519052

Gene: NAT2

Linked Data

• dbSNP Id: rs562717456
• gnomAD v3: 8-18393468-A-T
• gnomAD v4: 8-18393468-A-T
• MyVariant Identifiers: chr8:g.18250978A>T (hg19) ; chr8:g.18393468A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18393468A>T , CM000670.2:g.18393468A>T	GRCh38
NC_000008.10:g.18250978A>T , CM000670.1:g.18250978A>T	GRCh37
NC_000008.9:g.18295258A>T	NCBI36
NG_012246.1:g.7224A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000286479.4:c.-7+2123A>T MANE Select	ENSP00000286479.3:n.-7+2123A>T
ENST00000286479.3:c.-7+2123A>T	ENSP00000286479.3:n.-7+2123A>T
ENST00000520116.1:c.-58+2123A>T	ENSP00000428416.1:n.-58+2123A>T
NM_000015.2:c.-7+2123A>T	NP_000006.2:n.-7+2123A>T
XM_011544358.1:c.-7+732A>T	XP_011542660.1:n.-7+732A>T
XM_017012938.1:c.-7+6432A>T	XP_016868427.1:n.-7+6432A>T
NM_000015.3:c.-7+2123A>T MANE Select	NP_000006.2:n.-7+2123A>T