Canonical Allele Identifier: CA370635332
Gene: NAT2 HGNC NCBI

Linked Data

gnomAD v4: 8-18400181-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400181G>T , CM000670.2:g.18400181G>T GRCh38
NC_000008.10:g.18257691G>T , CM000670.1:g.18257691G>T GRCh37
NC_000008.9:g.18301971G>T NCBI36
NG_012246.1:g.13937G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.178G>T MANE Select ENSP00000286479.3:p.Val60Leu
ENST00000286479.3:c.178G>T ENSP00000286479.3:p.Val60Leu
ENST00000520116.1:c.-57-156G>T ENSP00000428416.1:n.-57-156G>T
NM_000015.2:c.178G>T NP_000006.2:p.Val60Leu
XM_011544358.1:c.178G>T XP_011542660.1:p.Val60Leu
XM_017012938.1:c.178G>T XP_016868427.1:p.Val60Leu
NM_000015.3:c.178G>T MANE Select NP_000006.2:p.Val60Leu