Canonical Allele Identifier: CA370636333

Gene: NAT2

Linked Data

• gnomAD v4: 8-18400650-C-T
• COSMIC: COSM1699777
• MyVariant Identifiers: chr8:g.18258160C>T (hg19) ; chr8:g.18400650C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18400650C>T , CM000670.2:g.18400650C>T	GRCh38
NC_000008.10:g.18258160C>T , CM000670.1:g.18258160C>T	GRCh37
NC_000008.9:g.18302440C>T	NCBI36
NG_012246.1:g.14406C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286479.4:c.647C>T MANE Select	ENSP00000286479.3:p.Ser216Leu
ENST00000286479.3:c.647C>T	ENSP00000286479.3:p.Ser216Leu
ENST00000520116.1:c.257C>T	ENSP00000428416.1:p.Ser86Leu
NM_000015.2:c.647C>T	NP_000006.2:p.Ser216Leu
XM_011544358.1:c.647C>T	XP_011542660.1:p.Ser216Leu
XM_017012938.1:c.647C>T	XP_016868427.1:p.Ser216Leu
NM_000015.3:c.647C>T MANE Select	NP_000006.2:p.Ser216Leu