Canonical Allele Identifier: CA370636409
Gene: NAT2 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400688G>A , CM000670.2:g.18400688G>A GRCh38
NC_000008.10:g.18258198G>A , CM000670.1:g.18258198G>A GRCh37
NC_000008.9:g.18302478G>A NCBI36
NG_012246.1:g.14444G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.685G>A MANE Select ENSP00000286479.3:p.Glu229Lys
ENST00000286479.3:c.685G>A ENSP00000286479.3:p.Glu229Lys
ENST00000520116.1:c.295G>A ENSP00000428416.1:p.Glu99Lys
NM_000015.2:c.685G>A NP_000006.2:p.Glu229Lys
XM_011544358.1:c.685G>A XP_011542660.1:p.Glu229Lys
XM_017012938.1:c.685G>A XP_016868427.1:p.Glu229Lys
NM_000015.3:c.685G>A MANE Select NP_000006.2:p.Glu229Lys