Canonical Allele Identifier: CA10634730

Gene: TWNK

Linked Data

• ClinVar Variation Id: 298521
• ClinVar RCV Id: RCV000267467 ; RCV000307286 ; RCV000364410 ; RCV000405295
• dbSNP Id: rs886046640
• MyVariant Identifiers: chr10:g.102754070A>G (hg19) ; chr10:g.100994313A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100994313A>G , CM000672.2:g.100994313A>G	GRCh38
NC_000010.10:g.102754070A>G , CM000672.1:g.102754070A>G	GRCh37
NC_000010.9:g.102744060A>G	NCBI36
NG_012624.1:g.11778A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.*803A>G MANE Select	ENSP00000309595.2:n.*803A>G
ENST00000370228.2:c.*1153A>G	ENSP00000359248.1:n.*1153A>G
ENST00000643860.1:c.*1382A>G	ENSP00000494389.1:n.*1382A>G
ENST00000650396.1:c.1983A>G
ENST00000311916.6:c.*803A>G	ENSP00000309595.2:n.*803A>G
ENST00000370228.1:c.*1153A>G	ENSP00000359248.1:n.*1153A>G
NM_001163812.1:c.*1153A>G	NP_001157284.1:n.*1153A>G
NM_001163813.1:c.*803A>G	NP_001157285.1:n.*803A>G
NM_001163814.1:c.*1153A>G	NP_001157286.1:n.*1153A>G
NM_021830.4:c.*803A>G	NP_068602.2:n.*803A>G
XM_011539974.1:c.*803A>G	XP_011538276.1:n.*803A>G
XM_011539975.1:c.*803A>G	XP_011538277.1:n.*803A>G
XM_011539975.2:c.*803A>G	XP_011538277.1:n.*803A>G
XM_017016437.1:c.*803A>G	XP_016871926.1:n.*803A>G
XR_001747142.1:n.3152A>G
XR_001747144.1:n.3134A>G
XR_002956991.1:n.2970A>G
XR_945788.2:n.3014A>G
NM_021830.5:c.*803A>G MANE Select	NP_068602.2:n.*803A>G
NM_001163812.2:c.*1153A>G	NP_001157284.1:n.*1153A>G
NM_001163813.2:c.*803A>G	NP_001157285.1:n.*803A>G
NM_001163814.2:c.*1153A>G	NP_001157286.1:n.*1153A>G
NM_001368275.1:c.*803A>G	NP_001355204.1:n.*803A>G
NR_160738.1:n.3646A>G
NR_160739.1:n.1850A>G
NR_160740.1:n.3508A>G
NR_160741.1:n.3464A>G
NR_160742.1:n.3628A>G