Canonical Allele Identifier: CA370635226
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs1800762657
gnomAD v3: 8-18400133-T-G
gnomAD v4: 8-18400133-T-G
MyVariant Identifiers: chr8:g.18257643T>G (hg19) chr8:g.18400133T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400133T>G , CM000670.2:g.18400133T>G GRCh38
NC_000008.10:g.18257643T>G , CM000670.1:g.18257643T>G GRCh37
NC_000008.9:g.18301923T>G NCBI36
NG_012246.1:g.13889T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.130T>G MANE Select ENSP00000286479.3:p.Cys44Gly
ENST00000286479.3:c.130T>G ENSP00000286479.3:p.Cys44Gly
ENST00000520116.1:c.-57-204T>G ENSP00000428416.1:n.-57-204T>G
NM_000015.2:c.130T>G NP_000006.2:p.Cys44Gly
XM_011544358.1:c.130T>G XP_011542660.1:p.Cys44Gly
XM_017012938.1:c.130T>G XP_016868427.1:p.Cys44Gly
NM_000015.3:c.130T>G MANE Select NP_000006.2:p.Cys44Gly
Search 100 bp 5'
Search 100 bp 3'