Canonical Allele Identifier: CA173519889
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs771801023
gnomAD v2: 8-18257647-G-T
gnomAD v3: 8-18400137-G-T
gnomAD v4: 8-18400137-G-T
MyVariant Identifiers: chr8:g.18257647G>T (hg19) chr8:g.18400137G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400137G>T , CM000670.2:g.18400137G>T GRCh38
NC_000008.10:g.18257647G>T , CM000670.1:g.18257647G>T GRCh37
NC_000008.9:g.18301927G>T NCBI36
NG_012246.1:g.13893G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.134G>T MANE Select ENSP00000286479.3:p.Gly45Val
ENST00000286479.3:c.134G>T ENSP00000286479.3:p.Gly45Val
ENST00000520116.1:c.-57-200G>T ENSP00000428416.1:n.-57-200G>T
NM_000015.2:c.134G>T NP_000006.2:p.Gly45Val
XM_011544358.1:c.134G>T XP_011542660.1:p.Gly45Val
XM_017012938.1:c.134G>T XP_016868427.1:p.Gly45Val
NM_000015.3:c.134G>T MANE Select NP_000006.2:p.Gly45Val
Search 100 bp 5'
Search 100 bp 3'