Canonical Allele Identifier: CA10634372

Gene: TWNK

Linked Data

• ClinVar Variation Id: 298505
• ClinVar RCV Id: RCV000308919 ; RCV000348968 ; RCV000363555 ; RCV000404345 ; RCV001582924 ; RCV001848071
• dbSNP Id: rs61871507
• gnomAD v2: 10-102753471-G-A
• gnomAD v3: 10-100993714-G-A
• gnomAD v4: 10-100993714-G-A
• MyVariant Identifiers: chr10:g.102753471G>A (hg19) ; chr10:g.100993714G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100993714G>A , CM000672.2:g.100993714G>A	GRCh38
NC_000010.10:g.102753471G>A , CM000672.1:g.102753471G>A	GRCh37
NC_000010.9:g.102743461G>A	NCBI36
NG_012624.1:g.11179G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.*204G>A MANE Select	ENSP00000309595.2:n.*204G>A
ENST00000370228.2:c.*554G>A	ENSP00000359248.1:n.*554G>A
ENST00000643860.1:c.*783G>A	ENSP00000494389.1:n.*783G>A
ENST00000650396.1:c.1384G>A
ENST00000311916.6:c.*204G>A	ENSP00000309595.2:n.*204G>A
ENST00000370228.1:c.*554G>A	ENSP00000359248.1:n.*554G>A
NM_001163812.1:c.*554G>A	NP_001157284.1:n.*554G>A
NM_001163813.1:c.*204G>A	NP_001157285.1:n.*204G>A
NM_001163814.1:c.*554G>A	NP_001157286.1:n.*554G>A
NM_021830.4:c.*204G>A	NP_068602.2:n.*204G>A
XM_011539974.1:c.*204G>A	XP_011538276.1:n.*204G>A
XM_011539975.1:c.*204G>A	XP_011538277.1:n.*204G>A
XM_011539975.2:c.*204G>A	XP_011538277.1:n.*204G>A
XM_017016437.1:c.*204G>A	XP_016871926.1:n.*204G>A
XR_001747142.1:n.2553G>A
XR_001747144.1:n.2535G>A
XR_002956991.1:n.2371G>A
XR_945788.2:n.2415G>A
NM_021830.5:c.*204G>A MANE Select	NP_068602.2:n.*204G>A
NM_001163812.2:c.*554G>A	NP_001157284.1:n.*554G>A
NM_001163813.2:c.*204G>A	NP_001157285.1:n.*204G>A
NM_001163814.2:c.*554G>A	NP_001157286.1:n.*554G>A
NM_001368275.1:c.*204G>A	NP_001355204.1:n.*204G>A
NR_160738.1:n.3047G>A
NR_160739.1:n.1251G>A
NR_160740.1:n.2909G>A
NR_160741.1:n.2865G>A
NR_160742.1:n.3029G>A