Canonical Allele Identifier: CA1111451039

Gene: NAT2

Linked Data

• dbSNP Id: rs1025537931
• gnomAD v3: 8-18393238-A-C
• gnomAD v4: 8-18393238-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18393238A>C , CM000670.2:g.18393238A>C	GRCh38
NC_000008.10:g.18250748A>C , CM000670.1:g.18250748A>C	GRCh37
NC_000008.9:g.18295028A>C	NCBI36
NG_012246.1:g.6994A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286479.4:c.-7+1893A>C MANE Select	ENSP00000286479.3:n.-7+1893A>C
ENST00000286479.3:c.-7+1893A>C	ENSP00000286479.3:n.-7+1893A>C
ENST00000520116.1:c.-58+1893A>C	ENSP00000428416.1:n.-58+1893A>C
NM_000015.2:c.-7+1893A>C	NP_000006.2:n.-7+1893A>C
XM_011544358.1:c.-7+502A>C	XP_011542660.1:n.-7+502A>C
XM_017012938.1:c.-7+6202A>C	XP_016868427.1:n.-7+6202A>C
NM_000015.3:c.-7+1893A>C MANE Select	NP_000006.2:n.-7+1893A>C