Canonical Allele Identifier: CA370635818
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs1392723145
gnomAD v2: 8-18257923-T-C
gnomAD v4: 8-18400413-T-C
MyVariant Identifiers: chr8:g.18257923T>C (hg19) chr8:g.18400413T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400413T>C , CM000670.2:g.18400413T>C GRCh38
NC_000008.10:g.18257923T>C , CM000670.1:g.18257923T>C GRCh37
NC_000008.9:g.18302203T>C NCBI36
NG_012246.1:g.14169T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.410T>C MANE Select ENSP00000286479.3:p.Leu137Ser
ENST00000286479.3:c.410T>C ENSP00000286479.3:p.Leu137Ser
ENST00000520116.1:c.20T>C ENSP00000428416.1:p.Leu7Ser
NM_000015.2:c.410T>C NP_000006.2:p.Leu137Ser
XM_011544358.1:c.410T>C XP_011542660.1:p.Leu137Ser
XM_017012938.1:c.410T>C XP_016868427.1:p.Leu137Ser
NM_000015.3:c.410T>C MANE Select NP_000006.2:p.Leu137Ser
Search 100 bp 5'
Search 100 bp 3'