Canonical Allele Identifier: CA173519081
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs922368060
gnomAD v2: 8-18251211-A-C
gnomAD v3: 8-18393701-A-C
gnomAD v4: 8-18393701-A-C
MyVariant Identifiers: chr8:g.18251211A>C (hg19) chr8:g.18393701A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18393701A>C , CM000670.2:g.18393701A>C GRCh38
NC_000008.10:g.18251211A>C , CM000670.1:g.18251211A>C GRCh37
NC_000008.9:g.18295491A>C NCBI36
NG_012246.1:g.7457A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.-7+2356A>C MANE Select ENSP00000286479.3:n.-7+2356A>C
ENST00000286479.3:c.-7+2356A>C ENSP00000286479.3:n.-7+2356A>C
ENST00000520116.1:c.-58+2356A>C ENSP00000428416.1:n.-58+2356A>C
NM_000015.2:c.-7+2356A>C NP_000006.2:n.-7+2356A>C
XM_011544358.1:c.-7+965A>C XP_011542660.1:n.-7+965A>C
XM_017012938.1:c.-6-6297A>C XP_016868427.1:n.-6-6297A>C
NM_000015.3:c.-7+2356A>C MANE Select NP_000006.2:n.-7+2356A>C
Search 100 bp 5'
Search 100 bp 3'