Canonical Allele Identifier: CA4651648
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs774002627
ExAC: 8:18258093 C / G
gnomAD v2: 8-18258093-C-G
gnomAD v3: 8-18400583-C-G
gnomAD v4: 8-18400583-C-G
MyVariant Identifiers: chr8:g.18258093C>G (hg19) chr8:g.18400583C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400583C>G , CM000670.2:g.18400583C>G GRCh38
NC_000008.10:g.18258093C>G , CM000670.1:g.18258093C>G GRCh37
NC_000008.9:g.18302373C>G NCBI36
NG_012246.1:g.14339C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000286479.4:c.580C>G MANE Select ENSP00000286479.3:p.Leu194Val
ENST00000286479.3:c.580C>G ENSP00000286479.3:p.Leu194Val
ENST00000520116.1:c.190C>G ENSP00000428416.1:p.Leu64Val
NM_000015.2:c.580C>G NP_000006.2:p.Leu194Val
XM_011544358.1:c.580C>G XP_011542660.1:p.Leu194Val
XM_017012938.1:c.580C>G XP_016868427.1:p.Leu194Val
NM_000015.3:c.580C>G MANE Select NP_000006.2:p.Leu194Val
Search 100 bp 5'
Search 100 bp 3'