Canonical Allele Identifier: CA370636421
Gene: NAT2 HGNC NCBI

Linked Data

gnomAD v4: 8-18400694-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400694G>T , CM000670.2:g.18400694G>T GRCh38
NC_000008.10:g.18258204G>T , CM000670.1:g.18258204G>T GRCh37
NC_000008.9:g.18302484G>T NCBI36
NG_012246.1:g.14450G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.691G>T MANE Select ENSP00000286479.3:p.Val231Phe
ENST00000286479.3:c.691G>T ENSP00000286479.3:p.Val231Phe
ENST00000520116.1:c.301G>T ENSP00000428416.1:p.Val101Phe
NM_000015.2:c.691G>T NP_000006.2:p.Val231Phe
XM_011544358.1:c.691G>T XP_011542660.1:p.Val231Phe
XM_017012938.1:c.691G>T XP_016868427.1:p.Val231Phe
NM_000015.3:c.691G>T MANE Select NP_000006.2:p.Val231Phe