Canonical Allele Identifier: CA173519893

Gene: NAT2

Linked Data

• dbSNP Id: rs78003756
• gnomAD v4: 8-18400172-G-T
• MyVariant Identifiers: chr8:g.18257682G>T (hg19) ; chr8:g.18400172G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18400172G>T , CM000670.2:g.18400172G>T	GRCh38
NC_000008.10:g.18257682G>T , CM000670.1:g.18257682G>T	GRCh37
NC_000008.9:g.18301962G>T	NCBI36
NG_012246.1:g.13928G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286479.4:c.169G>T MANE Select	ENSP00000286479.3:p.Asp57Tyr
ENST00000286479.3:c.169G>T	ENSP00000286479.3:p.Asp57Tyr
ENST00000520116.1:c.-57-165G>T	ENSP00000428416.1:n.-57-165G>T
NM_000015.2:c.169G>T	NP_000006.2:p.Asp57Tyr
XM_011544358.1:c.169G>T	XP_011542660.1:p.Asp57Tyr
XM_017012938.1:c.169G>T	XP_016868427.1:p.Asp57Tyr
NM_000015.3:c.169G>T MANE Select	NP_000006.2:p.Asp57Tyr