Canonical Allele Identifier: CA370635285

Gene: NAT2

Linked Data

• dbSNP Id: rs1473213000
• gnomAD v2: 8-18257670-G-C
• gnomAD v3: 8-18400160-G-C
• gnomAD v4: 8-18400160-G-C
• COSMIC: COSM5649948
• MyVariant Identifiers: chr8:g.18257670G>C (hg19) ; chr8:g.18400160G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18400160G>C , CM000670.2:g.18400160G>C	GRCh38
NC_000008.10:g.18257670G>C , CM000670.1:g.18257670G>C	GRCh37
NC_000008.9:g.18301950G>C	NCBI36
NG_012246.1:g.13916G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000286479.4:c.157G>C MANE Select	ENSP00000286479.3:p.Glu53Gln
ENST00000286479.3:c.157G>C	ENSP00000286479.3:p.Glu53Gln
ENST00000520116.1:c.-57-177G>C	ENSP00000428416.1:n.-57-177G>C
NM_000015.2:c.157G>C	NP_000006.2:p.Glu53Gln
XM_011544358.1:c.157G>C	XP_011542660.1:p.Glu53Gln
XM_017012938.1:c.157G>C	XP_016868427.1:p.Glu53Gln
NM_000015.3:c.157G>C MANE Select	NP_000006.2:p.Glu53Gln