Canonical Allele Identifier: CA370635165
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs752047953
gnomAD v2: 8-18257616-G-C
MyVariant Identifiers: chr8:g.18257616G>C (hg19) chr8:g.18400106G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400106G>C , CM000670.2:g.18400106G>C GRCh38
NC_000008.10:g.18257616G>C , CM000670.1:g.18257616G>C GRCh37
NC_000008.9:g.18301896G>C NCBI36
NG_012246.1:g.13862G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000286479.4:c.103G>C MANE Select ENSP00000286479.3:p.Val35Leu
ENST00000286479.3:c.103G>C ENSP00000286479.3:p.Val35Leu
ENST00000520116.1:c.-57-231G>C ENSP00000428416.1:n.-57-231G>C
NM_000015.2:c.103G>C NP_000006.2:p.Val35Leu
XM_011544358.1:c.103G>C XP_011542660.1:p.Val35Leu
XM_017012938.1:c.103G>C XP_016868427.1:p.Val35Leu
NM_000015.3:c.103G>C MANE Select NP_000006.2:p.Val35Leu
Search 100 bp 5'
Search 100 bp 3'