Canonical Allele Identifier: CA204145

Gene: SIRT6

Linked Data

• ClinVar Variation Id: 207888
• ClinVar RCV Id: RCV000190172
• dbSNP Id: rs201886868
• gnomAD v2: 19-4174940-G-A
• gnomAD v3: 19-4174943-G-A
• gnomAD v4: 19-4174943-G-A
• MyVariant Identifiers: chr19:g.4174940G>A (hg19) ; chr19:g.4174943G>A (hg38)
• PubMed: PMID:26132555

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4174943G>A , CM000681.2:g.4174943G>A	GRCh38
NC_000019.9:g.4174940G>A , CM000681.1:g.4174940G>A	GRCh37
NC_000019.8:g.4125940G>A	NCBI36
NG_047153.1:g.12657C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337491.7:c.742C>T MANE Select	ENSP00000337332.1:p.Arg248Cys
ENST00000305232.10:c.661C>T	ENSP00000305310.5:p.Arg221Cys
ENST00000337491.6:c.742C>T	ENSP00000337332.1:p.Arg248Cys
ENST00000594279.5:c.486C>T	ENSP00000472023.1:p.Thr162=
ENST00000595670.5:n.818C>T
ENST00000596119.5:n.1214C>T
ENST00000597896.5:c.520C>T	ENSP00000470215.1:p.Arg174Cys
ENST00000599365.5:c.*401C>T	ENSP00000473085.1:n.*401C>T
ENST00000600540.5:n.1168C>T
ENST00000600938.5:c.*482C>T	ENSP00000471123.1:n.*482C>T
ENST00000601069.5:n.1195C>T
ENST00000601488.5:c.519C>T	ENSP00000469001.1:p.Thr173=
ENST00000601571.1:c.634C>T	ENSP00000471837.1:n.634C>T
NM_001193285.1:c.661C>T	NP_001180214.1:p.Arg221Cys
NM_016539.2:c.742C>T	NP_057623.2:p.Arg248Cys
XM_005259574.1:c.559C>T	XP_005259631.1:p.Arg187Cys
XM_005259575.1:c.526C>T	XP_005259632.1:p.Arg176Cys
XM_005259577.3:c.702C>T	XP_005259634.1:p.Thr234=
NM_001193285.2:c.661C>T	NP_001180214.1:p.Arg221Cys
NM_001321058.1:c.526C>T	NP_001307987.1:p.Arg176Cys
NM_001321059.1:c.559C>T	NP_001307988.1:p.Arg187Cys
NM_001321060.1:c.702C>T	NP_001307989.1:p.Thr234=
NM_001321061.1:c.445C>T	NP_001307990.1:p.Arg149Cys
NM_001321062.1:c.337C>T	NP_001307991.1:p.Arg113Cys
NM_001321063.1:c.519C>T	NP_001307992.1:p.Thr173=
NM_001321064.1:c.486C>T	NP_001307993.1:p.Thr162=
NM_016539.3:c.742C>T	NP_057623.2:p.Arg248Cys
XM_024451539.1:c.670C>T	XP_024307307.1:p.Arg224Cys
XM_024451540.1:c.486C>T	XP_024307308.1:p.Thr162=
NM_016539.4:c.742C>T MANE Select	NP_057623.2:p.Arg248Cys
NM_001193285.3:c.661C>T	NP_001180214.1:p.Arg221Cys
NM_001321058.2:c.526C>T	NP_001307987.1:p.Arg176Cys
NM_001321059.2:c.559C>T	NP_001307988.1:p.Arg187Cys
NM_001321060.2:c.702C>T	NP_001307989.1:p.Thr234=
NM_001321061.2:c.445C>T	NP_001307990.1:p.Arg149Cys
NM_001321062.2:c.337C>T	NP_001307991.1:p.Arg113Cys
NM_001321063.2:c.519C>T	NP_001307992.1:p.Thr173=
NM_001321064.2:c.486C>T	NP_001307993.1:p.Thr162=