Canonical Allele Identifier: CA370635285
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs1473213000
gnomAD v2: 8-18257670-G-C
gnomAD v3: 8-18400160-G-C
gnomAD v4: 8-18400160-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400160G>C , CM000670.2:g.18400160G>C GRCh38
NC_000008.10:g.18257670G>C , CM000670.1:g.18257670G>C GRCh37
NC_000008.9:g.18301950G>C NCBI36
NG_012246.1:g.13916G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.157G>C MANE Select ENSP00000286479.3:p.Glu53Gln
ENST00000286479.3:c.157G>C ENSP00000286479.3:p.Glu53Gln
ENST00000520116.1:c.-57-177G>C ENSP00000428416.1:n.-57-177G>C
NM_000015.2:c.157G>C NP_000006.2:p.Glu53Gln
XM_011544358.1:c.157G>C XP_011542660.1:p.Glu53Gln
XM_017012938.1:c.157G>C XP_016868427.1:p.Glu53Gln
NM_000015.3:c.157G>C MANE Select NP_000006.2:p.Glu53Gln