Canonical Allele Identifier: CA370636599
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs1310257229
gnomAD v2: 8-18258288-A-G
gnomAD v4: 8-18400778-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400778A>G , CM000670.2:g.18400778A>G GRCh38
NC_000008.10:g.18258288A>G , CM000670.1:g.18258288A>G GRCh37
NC_000008.9:g.18302568A>G NCBI36
NG_012246.1:g.14534A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.775A>G MANE Select ENSP00000286479.3:p.Thr259Ala
ENST00000286479.3:c.775A>G ENSP00000286479.3:p.Thr259Ala
ENST00000520116.1:c.385A>G ENSP00000428416.1:p.Thr129Ala
NM_000015.2:c.775A>G NP_000006.2:p.Thr259Ala
XM_011544358.1:c.775A>G XP_011542660.1:p.Thr259Ala
XM_017012938.1:c.775A>G XP_016868427.1:p.Thr259Ala
NM_000015.3:c.775A>G MANE Select NP_000006.2:p.Thr259Ala