Canonical Allele Identifier: CA459881101
Gene: NAT2 HGNC NCBI

Linked Data

gnomAD v4: 8-18400288-C-T
MyVariant Identifiers: chr8:g.18257798C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400288C>T , CM000670.2:g.18400288C>T GRCh38
NC_000008.10:g.18257798C>T , CM000670.1:g.18257798C>T GRCh37
NC_000008.9:g.18302078C>T NCBI36
NG_012246.1:g.14044C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000286479.4:c.285C>T MANE Select ENSP00000286479.3:p.Ile95=
ENST00000286479.3:c.285C>T ENSP00000286479.3:p.Ile95=
ENST00000520116.1:c.-57-49C>T ENSP00000428416.1:n.-57-49C>T
NM_000015.2:c.285C>T NP_000006.2:p.Ile95=
XM_011544358.1:c.285C>T XP_011542660.1:p.Ile95=
XM_017012938.1:c.285C>T XP_016868427.1:p.Ile95=
NM_000015.3:c.285C>T MANE Select NP_000006.2:p.Ile95=