Canonical Allele Identifier: CA370635129
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs1800761418
gnomAD v4: 8-18400088-G-C
MyVariant Identifiers: chr8:g.18257598G>C (hg19) chr8:g.18400088G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400088G>C , CM000670.2:g.18400088G>C GRCh38
NC_000008.10:g.18257598G>C , CM000670.1:g.18257598G>C GRCh37
NC_000008.9:g.18301878G>C NCBI36
NG_012246.1:g.13844G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000286479.4:c.85G>C MANE Select ENSP00000286479.3:p.Glu29Gln
ENST00000286479.3:c.85G>C ENSP00000286479.3:p.Glu29Gln
ENST00000520116.1:c.-57-249G>C ENSP00000428416.1:n.-57-249G>C
NM_000015.2:c.85G>C NP_000006.2:p.Glu29Gln
XM_011544358.1:c.85G>C XP_011542660.1:p.Glu29Gln
XM_017012938.1:c.85G>C XP_016868427.1:p.Glu29Gln
NM_000015.3:c.85G>C MANE Select NP_000006.2:p.Glu29Gln
Search 100 bp 5'
Search 100 bp 3'