Canonical Allele Identifier: CA10630756
Gene: TWNK HGNC NCBI

Linked Data

ClinVar Variation Id: 298491
dbSNP Id: rs62626270

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.100987921G>C , CM000672.2:g.100987921G>C GRCh38
NC_000010.10:g.102747678G>C , CM000672.1:g.102747678G>C GRCh37
NC_000010.9:g.102737668G>C NCBI36
NG_011646.1:g.4595C>G
NG_012624.1:g.5386G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000311916.8:c.-290G>C MANE Select ENSP00000309595.2:n.-290G>C
ENST00000370228.2:c.-290G>C ENSP00000359248.1:n.-290G>C
ENST00000643860.1:c.-290G>C ENSP00000494389.1:n.-290G>C
ENST00000646226.1:n.58+308G>C
ENST00000459764.1:n.86+41G>C
ENST00000473656.5:n.64+308G>C
ENST00000476766.5:n.191+364G>C
NM_001163812.1:c.-290G>C NP_001157284.1:n.-290G>C
NM_001163813.1:c.-120+308G>C NP_001157285.1:n.-120+308G>C
NM_001163814.1:c.-120+308G>C NP_001157286.1:n.-120+308G>C
NM_021830.4:c.-290G>C NP_068602.2:n.-290G>C
XM_011539975.1:c.-58+308G>C XP_011538277.1:n.-58+308G>C
XR_945788.1:n.544G>C
XM_011539975.2:c.-58+308G>C XP_011538277.1:n.-58+308G>C
NM_021830.5:c.-290G>C MANE Select NP_068602.2:n.-290G>C
NM_001163812.2:c.-290G>C NP_001157284.1:n.-290G>C
NM_001163813.2:c.-120+308G>C NP_001157285.1:n.-120+308G>C
NM_001163814.2:c.-120+308G>C NP_001157286.1:n.-120+308G>C
NM_001368275.1:c.-58+308G>C NP_001355204.1:n.-58+308G>C
NR_160738.1:n.379G>C
NR_160739.1:n.71+308G>C
NR_160740.1:n.379G>C
NR_160741.1:n.379G>C
NR_160742.1:n.379G>C