Canonical Allele Identifier: CA323951

Gene: TWNK

Linked Data

• ClinVar Variation Id: 214180
• ClinVar RCV Id: RCV000338208 ; RCV000283282 ; RCV000377740 ; RCV000374204 ; RCV000871398 ; RCV001847877 ; RCV004530167
• dbSNP Id: rs182559752
• ExAC: 10:102753257 G / A
• gnomAD v2: 10-102753257-G-A
• gnomAD v3: 10-100993500-G-A
• gnomAD v4: 10-100993500-G-A
• MyVariant Identifiers: chr10:g.102753257G>A (hg19) ; chr10:g.100993500G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100993500G>A , CM000672.2:g.100993500G>A	GRCh38
NC_000010.10:g.102753257G>A , CM000672.1:g.102753257G>A	GRCh37
NC_000010.9:g.102743247G>A	NCBI36
NG_012624.1:g.10965G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.2045G>A MANE Select	ENSP00000309595.2:p.Arg682His
ENST00000370228.2:c.*340G>A	ENSP00000359248.1:n.*340G>A
ENST00000643860.1:c.*569G>A	ENSP00000494389.1:n.*569G>A
ENST00000647109.1:c.748G>A
ENST00000650396.1:c.1170G>A
ENST00000311916.6:c.2045G>A	ENSP00000309595.2:p.Arg682His
ENST00000370228.1:c.*340G>A	ENSP00000359248.1:n.*340G>A
ENST00000473656.5:n.866G>A
NM_001163812.1:c.*340G>A	NP_001157284.1:n.*340G>A
NM_001163813.1:c.683G>A	NP_001157285.1:p.Arg228His
NM_001163814.1:c.*340G>A	NP_001157286.1:n.*340G>A
NM_021830.4:c.2045G>A	NP_068602.2:p.Arg682His
XM_011539974.1:c.683G>A	XP_011538276.1:p.Arg228His
XM_011539975.1:c.683G>A	XP_011538277.1:p.Arg228His
XM_011539975.2:c.683G>A	XP_011538277.1:p.Arg228His
XM_017016437.1:c.683G>A	XP_016871926.1:p.Arg228His
XR_001747142.1:n.2339G>A
XR_001747144.1:n.2321G>A
XR_002956991.1:n.2157G>A
XR_945788.2:n.2201G>A
NM_021830.5:c.2045G>A MANE Select	NP_068602.2:p.Arg682His
NM_001163812.2:c.*340G>A	NP_001157284.1:n.*340G>A
NM_001163813.2:c.683G>A	NP_001157285.1:p.Arg228His
NM_001163814.2:c.*340G>A	NP_001157286.1:n.*340G>A
NM_001368275.1:c.683G>A	NP_001355204.1:p.Arg228His
NR_160738.1:n.2833G>A
NR_160739.1:n.1037G>A
NR_160740.1:n.2695G>A
NR_160741.1:n.2651G>A
NR_160742.1:n.2815G>A