Canonical Allele Identifier: CA212965980

Gene: TWNK

Linked Data

• dbSNP Id: rs917417275
• gnomAD v2: 10-102753999-C-G
• gnomAD v3: 10-100994242-C-G
• gnomAD v4: 10-100994242-C-G
• MyVariant Identifiers: chr10:g.102753999C>G (hg19) ; chr10:g.100994242C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100994242C>G , CM000672.2:g.100994242C>G	GRCh38
NC_000010.10:g.102753999C>G , CM000672.1:g.102753999C>G	GRCh37
NC_000010.9:g.102743989C>G	NCBI36
NG_012624.1:g.11707C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.*732C>G MANE Select	ENSP00000309595.2:n.*732C>G
ENST00000370228.2:c.*1082C>G	ENSP00000359248.1:n.*1082C>G
ENST00000643860.1:c.*1311C>G	ENSP00000494389.1:n.*1311C>G
ENST00000650396.1:c.1912C>G
ENST00000311916.6:c.*732C>G	ENSP00000309595.2:n.*732C>G
ENST00000370228.1:c.*1082C>G	ENSP00000359248.1:n.*1082C>G
NM_001163812.1:c.*1082C>G	NP_001157284.1:n.*1082C>G
NM_001163813.1:c.*732C>G	NP_001157285.1:n.*732C>G
NM_001163814.1:c.*1082C>G	NP_001157286.1:n.*1082C>G
NM_021830.4:c.*732C>G	NP_068602.2:n.*732C>G
XM_011539974.1:c.*732C>G	XP_011538276.1:n.*732C>G
XM_011539975.1:c.*732C>G	XP_011538277.1:n.*732C>G
XM_011539975.2:c.*732C>G	XP_011538277.1:n.*732C>G
XM_017016437.1:c.*732C>G	XP_016871926.1:n.*732C>G
XR_001747142.1:n.3081C>G
XR_001747144.1:n.3063C>G
XR_002956991.1:n.2899C>G
XR_945788.2:n.2943C>G
NM_021830.5:c.*732C>G MANE Select	NP_068602.2:n.*732C>G
NM_001163812.2:c.*1082C>G	NP_001157284.1:n.*1082C>G
NM_001163813.2:c.*732C>G	NP_001157285.1:n.*732C>G
NM_001163814.2:c.*1082C>G	NP_001157286.1:n.*1082C>G
NM_001368275.1:c.*732C>G	NP_001355204.1:n.*732C>G
NR_160738.1:n.3575C>G
NR_160739.1:n.1779C>G
NR_160740.1:n.3437C>G
NR_160741.1:n.3393C>G
NR_160742.1:n.3557C>G