Canonical Allele Identifier: CA370635725
Gene: NAT2 HGNC NCBI

Linked Data

gnomAD v4: 8-18400368-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400368A>C , CM000670.2:g.18400368A>C GRCh38
NC_000008.10:g.18257878A>C , CM000670.1:g.18257878A>C GRCh37
NC_000008.9:g.18302158A>C NCBI36
NG_012246.1:g.14124A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000286479.4:c.365A>C MANE Select ENSP00000286479.3:p.Asp122Ala
ENST00000286479.3:c.365A>C ENSP00000286479.3:p.Asp122Ala
ENST00000520116.1:c.-26A>C ENSP00000428416.1:n.-26A>C
NM_000015.2:c.365A>C NP_000006.2:p.Asp122Ala
XM_011544358.1:c.365A>C XP_011542660.1:p.Asp122Ala
XM_017012938.1:c.365A>C XP_016868427.1:p.Asp122Ala
NM_000015.3:c.365A>C MANE Select NP_000006.2:p.Asp122Ala