Canonical Allele Identifier: CA4651610

Gene: NAT2

Linked Data

• dbSNP Id: rs140983217
• ExAC: 8:18257894 C / T
• gnomAD v2: 8-18257894-C-T
• gnomAD v4: 8-18400384-C-T
• MyVariant Identifiers: chr8:g.18257894C>T (hg19) ; chr8:g.18400384C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18400384C>T , CM000670.2:g.18400384C>T	GRCh38
NC_000008.10:g.18257894C>T , CM000670.1:g.18257894C>T	GRCh37
NC_000008.9:g.18302174C>T	NCBI36
NG_012246.1:g.14140C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000286479.4:c.381C>T MANE Select	ENSP00000286479.3:p.Ser127=
ENST00000286479.3:c.381C>T	ENSP00000286479.3:p.Ser127=
ENST00000520116.1:c.-10C>T	ENSP00000428416.1:n.-10C>T
NM_000015.2:c.381C>T	NP_000006.2:p.Ser127=
XM_011544358.1:c.381C>T	XP_011542660.1:p.Ser127=
XM_017012938.1:c.381C>T	XP_016868427.1:p.Ser127=
NM_000015.3:c.381C>T MANE Select	NP_000006.2:p.Ser127=