Canonical Allele Identifier: CA370635358
Gene: NAT2 HGNC NCBI

Linked Data

gnomAD v4: 8-18400194-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400194G>C , CM000670.2:g.18400194G>C GRCh38
NC_000008.10:g.18257704G>C , CM000670.1:g.18257704G>C GRCh37
NC_000008.9:g.18301984G>C NCBI36
NG_012246.1:g.13950G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000286479.4:c.191G>C MANE Select ENSP00000286479.3:p.Arg64Pro
ENST00000286479.3:c.191G>C ENSP00000286479.3:p.Arg64Pro
ENST00000520116.1:c.-57-143G>C ENSP00000428416.1:n.-57-143G>C
NM_000015.2:c.191G>C NP_000006.2:p.Arg64Pro
XM_011544358.1:c.191G>C XP_011542660.1:p.Arg64Pro
XM_017012938.1:c.191G>C XP_016868427.1:p.Arg64Pro
NM_000015.3:c.191G>C MANE Select NP_000006.2:p.Arg64Pro