Canonical Allele Identifier: CA5653116

Gene: TWNK

Linked Data

• ClinVar Variation Id: 2802983
• ClinVar RCV Id: RCV003679265
• dbSNP Id: rs753170387
• ExAC: 10:102748727 A / C
• gnomAD v2: 10-102748727-A-C
• MyVariant Identifiers: chr10:g.102748727A>C (hg19) ; chr10:g.100988970A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100988970A>C , CM000672.2:g.100988970A>C	GRCh38
NC_000010.10:g.102748727A>C , CM000672.1:g.102748727A>C	GRCh37
NC_000010.9:g.102738717A>C	NCBI36
NG_011646.1:g.3546T>G
NG_012624.1:g.6435A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.760A>C MANE Select	ENSP00000309595.2:p.Ser254Arg
ENST00000370228.2:c.760A>C	ENSP00000359248.1:p.Ser254Arg
ENST00000643860.1:c.760A>C	ENSP00000494389.1:p.Ser254Arg
ENST00000646226.1:n.59-674A>C
ENST00000311916.6:c.760A>C	ENSP00000309595.2:p.Ser254Arg
ENST00000370228.1:c.760A>C	ENSP00000359248.1:p.Ser254Arg
ENST00000459764.1:n.87-674A>C
ENST00000473656.5:n.65-674A>C
ENST00000476766.5:n.192-736A>C
NM_001163812.1:c.760A>C	NP_001157284.1:p.Ser254Arg
NM_001163813.1:c.-119-674A>C	NP_001157285.1:n.-119-674A>C
NM_001163814.1:c.-119-674A>C	NP_001157286.1:n.-119-674A>C
NM_021830.4:c.760A>C	NP_068602.2:p.Ser254Arg
XM_011539975.1:c.-57-736A>C	XP_011538277.1:n.-57-736A>C
XR_945788.1:n.1593A>C
XM_011539975.2:c.-57-736A>C	XP_011538277.1:n.-57-736A>C
XM_017016437.1:c.-541A>C	XP_016871926.1:n.-541A>C
XR_001747142.1:n.934A>C
XR_001747144.1:n.934A>C
XR_002956991.1:n.934A>C
XR_945788.2:n.934A>C
NM_021830.5:c.760A>C MANE Select	NP_068602.2:p.Ser254Arg
NM_001163812.2:c.760A>C	NP_001157284.1:p.Ser254Arg
NM_001163813.2:c.-119-674A>C	NP_001157285.1:n.-119-674A>C
NM_001163814.2:c.-119-674A>C	NP_001157286.1:n.-119-674A>C
NM_001368275.1:c.-57-736A>C	NP_001355204.1:n.-57-736A>C
NR_160738.1:n.1428A>C
NR_160739.1:n.72-674A>C
NR_160740.1:n.1428A>C
NR_160741.1:n.1428A>C
NR_160742.1:n.1428A>C