Canonical Allele Identifier: CA1111451107
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs1800623254
gnomAD v3: 8-18393457-G-A
gnomAD v4: 8-18393457-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18393457G>A , CM000670.2:g.18393457G>A GRCh38
NC_000008.10:g.18250967G>A , CM000670.1:g.18250967G>A GRCh37
NC_000008.9:g.18295247G>A NCBI36
NG_012246.1:g.7213G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000286479.4:c.-7+2112G>A MANE Select ENSP00000286479.3:n.-7+2112G>A
ENST00000286479.3:c.-7+2112G>A ENSP00000286479.3:n.-7+2112G>A
ENST00000520116.1:c.-58+2112G>A ENSP00000428416.1:n.-58+2112G>A
NM_000015.2:c.-7+2112G>A NP_000006.2:n.-7+2112G>A
XM_011544358.1:c.-7+721G>A XP_011542660.1:n.-7+721G>A
XM_017012938.1:c.-7+6421G>A XP_016868427.1:n.-7+6421G>A
NM_000015.3:c.-7+2112G>A MANE Select NP_000006.2:n.-7+2112G>A
Search 100 bp 5'
Search 100 bp 3'