Canonical Allele Identifier: CA370636715
Gene: NAT2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400833G>C , CM000670.2:g.18400833G>C GRCh38
NC_000008.10:g.18258343G>C , CM000670.1:g.18258343G>C GRCh37
NC_000008.9:g.18302623G>C NCBI36
NG_012246.1:g.14589G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.830G>C MANE Select ENSP00000286479.3:p.Arg277Thr
ENST00000286479.3:c.830G>C ENSP00000286479.3:p.Arg277Thr
ENST00000520116.1:c.440G>C ENSP00000428416.1:p.Arg147Thr
NM_000015.2:c.830G>C NP_000006.2:p.Arg277Thr
XM_011544358.1:c.830G>C XP_011542660.1:p.Arg277Thr
XM_017012938.1:c.830G>C XP_016868427.1:p.Arg277Thr
NM_000015.3:c.830G>C MANE Select NP_000006.2:p.Arg277Thr