Canonical Allele Identifier: CA370636380
Gene: NAT2 HGNC NCBI

Linked Data

gnomAD v4: 8-18400673-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400673T>C , CM000670.2:g.18400673T>C GRCh38
NC_000008.10:g.18258183T>C , CM000670.1:g.18258183T>C GRCh37
NC_000008.9:g.18302463T>C NCBI36
NG_012246.1:g.14429T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000286479.4:c.670T>C MANE Select ENSP00000286479.3:p.Ser224Pro
ENST00000286479.3:c.670T>C ENSP00000286479.3:p.Ser224Pro
ENST00000520116.1:c.280T>C ENSP00000428416.1:p.Ser94Pro
NM_000015.2:c.670T>C NP_000006.2:p.Ser224Pro
XM_011544358.1:c.670T>C XP_011542660.1:p.Ser224Pro
XM_017012938.1:c.670T>C XP_016868427.1:p.Ser224Pro
NM_000015.3:c.670T>C MANE Select NP_000006.2:p.Ser224Pro