Canonical Allele Identifier: CA849434213
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs1246877259
MyVariant Identifiers: chr8:g.18251203T>C (hg19) chr8:g.18393693T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18393693T>C , CM000670.2:g.18393693T>C GRCh38
NC_000008.10:g.18251203T>C , CM000670.1:g.18251203T>C GRCh37
NC_000008.9:g.18295483T>C NCBI36
NG_012246.1:g.7449T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.-7+2348T>C MANE Select ENSP00000286479.3:n.-7+2348T>C
ENST00000286479.3:c.-7+2348T>C ENSP00000286479.3:n.-7+2348T>C
ENST00000520116.1:c.-58+2348T>C ENSP00000428416.1:n.-58+2348T>C
NM_000015.2:c.-7+2348T>C NP_000006.2:n.-7+2348T>C
XM_011544358.1:c.-7+957T>C XP_011542660.1:n.-7+957T>C
XM_017012938.1:c.-6-6305T>C XP_016868427.1:n.-6-6305T>C
NM_000015.3:c.-7+2348T>C MANE Select NP_000006.2:n.-7+2348T>C
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