Canonical Allele Identifier: CA10627886

Gene: TWNK

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100994065G>A , CM000672.2:g.100994065G>A	GRCh38
NC_000010.10:g.102753822G>A , CM000672.1:g.102753822G>A	GRCh37
NC_000010.9:g.102743812G>A	NCBI36
NG_012624.1:g.11530G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.*555G>A MANE Select	ENSP00000309595.2:n.*555G>A
ENST00000370228.2:c.*905G>A	ENSP00000359248.1:n.*905G>A
ENST00000643860.1:c.*1134G>A	ENSP00000494389.1:n.*1134G>A
ENST00000650396.1:c.1735G>A
ENST00000311916.6:c.*555G>A	ENSP00000309595.2:n.*555G>A
ENST00000370228.1:c.*905G>A	ENSP00000359248.1:n.*905G>A
NM_001163812.1:c.*905G>A	NP_001157284.1:n.*905G>A
NM_001163813.1:c.*555G>A	NP_001157285.1:n.*555G>A
NM_001163814.1:c.*905G>A	NP_001157286.1:n.*905G>A
NM_021830.4:c.*555G>A	NP_068602.2:n.*555G>A
XM_011539974.1:c.*555G>A	XP_011538276.1:n.*555G>A
XM_011539975.1:c.*555G>A	XP_011538277.1:n.*555G>A
XM_011539975.2:c.*555G>A	XP_011538277.1:n.*555G>A
XM_017016437.1:c.*555G>A	XP_016871926.1:n.*555G>A
XR_001747142.1:n.2904G>A
XR_001747144.1:n.2886G>A
XR_002956991.1:n.2722G>A
XR_945788.2:n.2766G>A
NM_021830.5:c.*555G>A MANE Select	NP_068602.2:n.*555G>A
NM_001163812.2:c.*905G>A	NP_001157284.1:n.*905G>A
NM_001163813.2:c.*555G>A	NP_001157285.1:n.*555G>A
NM_001163814.2:c.*905G>A	NP_001157286.1:n.*905G>A
NM_001368275.1:c.*555G>A	NP_001355204.1:n.*555G>A
NR_160738.1:n.3398G>A
NR_160739.1:n.1602G>A
NR_160740.1:n.3260G>A
NR_160741.1:n.3216G>A
NR_160742.1:n.3380G>A