Canonical Allele Identifier: CA370636449
Gene: NAT2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400706G>A , CM000670.2:g.18400706G>A GRCh38
NC_000008.10:g.18258216G>A , CM000670.1:g.18258216G>A GRCh37
NC_000008.9:g.18302496G>A NCBI36
NG_012246.1:g.14462G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.703G>A MANE Select ENSP00000286479.3:p.Val235Met
ENST00000286479.3:c.703G>A ENSP00000286479.3:p.Val235Met
ENST00000520116.1:c.313G>A ENSP00000428416.1:p.Val105Met
NM_000015.2:c.703G>A NP_000006.2:p.Val235Met
XM_011544358.1:c.703G>A XP_011542660.1:p.Val235Met
XM_017012938.1:c.703G>A XP_016868427.1:p.Val235Met
NM_000015.3:c.703G>A MANE Select NP_000006.2:p.Val235Met