Canonical Allele Identifier: CA370636443
Gene: NAT2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400703T>G , CM000670.2:g.18400703T>G GRCh38
NC_000008.10:g.18258213T>G , CM000670.1:g.18258213T>G GRCh37
NC_000008.9:g.18302493T>G NCBI36
NG_012246.1:g.14459T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.700T>G MANE Select ENSP00000286479.3:p.Leu234Val
ENST00000286479.3:c.700T>G ENSP00000286479.3:p.Leu234Val
ENST00000520116.1:c.310T>G ENSP00000428416.1:p.Leu104Val
NM_000015.2:c.700T>G NP_000006.2:p.Leu234Val
XM_011544358.1:c.700T>G XP_011542660.1:p.Leu234Val
XM_017012938.1:c.700T>G XP_016868427.1:p.Leu234Val
NM_000015.3:c.700T>G MANE Select NP_000006.2:p.Leu234Val