Canonical Allele Identifier: CA370635490
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs1474441417
gnomAD v2: 8-18257767-A-C
gnomAD v3: 8-18400257-A-C
gnomAD v4: 8-18400257-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400257A>C , CM000670.2:g.18400257A>C GRCh38
NC_000008.10:g.18257767A>C , CM000670.1:g.18257767A>C GRCh37
NC_000008.9:g.18302047A>C NCBI36
NG_012246.1:g.14013A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.254A>C MANE Select ENSP00000286479.3:p.Gln85Pro
ENST00000286479.3:c.254A>C ENSP00000286479.3:p.Gln85Pro
ENST00000520116.1:c.-57-80A>C ENSP00000428416.1:n.-57-80A>C
NM_000015.2:c.254A>C NP_000006.2:p.Gln85Pro
XM_011544358.1:c.254A>C XP_011542660.1:p.Gln85Pro
XM_017012938.1:c.254A>C XP_016868427.1:p.Gln85Pro
NM_000015.3:c.254A>C MANE Select NP_000006.2:p.Gln85Pro