Canonical Allele Identifier: CA2610579779

Gene: TWNK

Linked Data

• gnomAD v4: 10-100994219-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100994219C>A , CM000672.2:g.100994219C>A	GRCh38
NC_000010.10:g.102753976C>A , CM000672.1:g.102753976C>A	GRCh37
NC_000010.9:g.102743966C>A	NCBI36
NG_012624.1:g.11684C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.*709C>A MANE Select	ENSP00000309595.2:n.*709C>A
ENST00000370228.2:c.*1059C>A	ENSP00000359248.1:n.*1059C>A
ENST00000643860.1:c.*1288C>A	ENSP00000494389.1:n.*1288C>A
ENST00000650396.1:c.1889C>A
ENST00000311916.6:c.*709C>A	ENSP00000309595.2:n.*709C>A
ENST00000370228.1:c.*1059C>A	ENSP00000359248.1:n.*1059C>A
NM_001163812.1:c.*1059C>A	NP_001157284.1:n.*1059C>A
NM_001163813.1:c.*709C>A	NP_001157285.1:n.*709C>A
NM_001163814.1:c.*1059C>A	NP_001157286.1:n.*1059C>A
NM_021830.4:c.*709C>A	NP_068602.2:n.*709C>A
XM_011539974.1:c.*709C>A	XP_011538276.1:n.*709C>A
XM_011539975.1:c.*709C>A	XP_011538277.1:n.*709C>A
XM_011539975.2:c.*709C>A	XP_011538277.1:n.*709C>A
XM_017016437.1:c.*709C>A	XP_016871926.1:n.*709C>A
XR_001747142.1:n.3058C>A
XR_001747144.1:n.3040C>A
XR_002956991.1:n.2876C>A
XR_945788.2:n.2920C>A
NM_021830.5:c.*709C>A MANE Select	NP_068602.2:n.*709C>A
NM_001163812.2:c.*1059C>A	NP_001157284.1:n.*1059C>A
NM_001163813.2:c.*709C>A	NP_001157285.1:n.*709C>A
NM_001163814.2:c.*1059C>A	NP_001157286.1:n.*1059C>A
NM_001368275.1:c.*709C>A	NP_001355204.1:n.*709C>A
NR_160738.1:n.3552C>A
NR_160739.1:n.1756C>A
NR_160740.1:n.3414C>A
NR_160741.1:n.3370C>A
NR_160742.1:n.3534C>A