Canonical Allele Identifier: CA173519945
Gene: NAT2 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.18400791T>C
GRCh37 chr8:g.18258301T>C
Revel Score:
ENST00000286479 (MANE Select) 0.119
ENST00000520116 0.119
gnomAD v2:
8:18258301 T / C
gnomAD v3:
8:18400791 T / C
gnomAD v4:
chr8-18400791-T-C
Joint Max Group AF 0.00001995 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00001998 (NFE)
ClinVar Allele:
3565262
ClinVar RCV:
RCV004834163
ClinVar Variation:
3402734
dbSNP:
968335980
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400791T>C , CM000670.2:g.18400791T>C GRCh38
NC_000008.10:g.18258301T>C , CM000670.1:g.18258301T>C GRCh37
NC_000008.9:g.18302581T>C NCBI36
NG_012246.1:g.14547T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.788T>C MANE Select ENSP00000286479.3:p.Val263Ala
ENST00000286479.3:c.788T>C ENSP00000286479.3:p.Val263Ala
ENST00000520116.1:c.398T>C ENSP00000428416.1:p.Val133Ala
NM_000015.2:c.788T>C NP_000006.2:p.Val263Ala
XM_011544358.1:c.788T>C XP_011542660.1:p.Val263Ala
XM_017012938.1:c.788T>C XP_016868427.1:p.Val263Ala
NM_000015.3:c.788T>C MANE Select NP_000006.2:p.Val263Ala
Search 100 bp 5'
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