Canonical Allele Identifier: CA378207190

Gene: TWNK

Linked Data

• MyVariant Identifiers: chr10:g.102748345G>C (hg19) ; chr10:g.100988588G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100988588G>C , CM000672.2:g.100988588G>C	GRCh38
NC_000010.10:g.102748345G>C , CM000672.1:g.102748345G>C	GRCh37
NC_000010.9:g.102738335G>C	NCBI36
NG_011646.1:g.3928C>G
NG_012624.1:g.6053G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.378G>C MANE Select	ENSP00000309595.2:p.Gln126His
ENST00000370228.2:c.378G>C	ENSP00000359248.1:p.Gln126His
ENST00000643860.1:c.378G>C	ENSP00000494389.1:p.Gln126His
ENST00000646226.1:n.58+975G>C
ENST00000311916.6:c.378G>C	ENSP00000309595.2:p.Gln126His
ENST00000370228.1:c.378G>C	ENSP00000359248.1:p.Gln126His
ENST00000459764.1:n.86+708G>C
ENST00000473656.5:n.64+975G>C
ENST00000476766.5:n.191+1031G>C
NM_001163812.1:c.378G>C	NP_001157284.1:p.Gln126His
NM_001163813.1:c.-120+975G>C	NP_001157285.1:n.-120+975G>C
NM_001163814.1:c.-120+975G>C	NP_001157286.1:n.-120+975G>C
NM_021830.4:c.378G>C	NP_068602.2:p.Gln126His
XM_011539975.1:c.-58+975G>C	XP_011538277.1:n.-58+975G>C
XR_945788.1:n.1211G>C
XM_011539975.2:c.-58+975G>C	XP_011538277.1:n.-58+975G>C
XM_017016437.1:c.-923G>C	XP_016871926.1:n.-923G>C
XR_001747142.1:n.552G>C
XR_001747144.1:n.552G>C
XR_002956991.1:n.552G>C
XR_945788.2:n.552G>C
NM_021830.5:c.378G>C MANE Select	NP_068602.2:p.Gln126His
NM_001163812.2:c.378G>C	NP_001157284.1:p.Gln126His
NM_001163813.2:c.-120+975G>C	NP_001157285.1:n.-120+975G>C
NM_001163814.2:c.-120+975G>C	NP_001157286.1:n.-120+975G>C
NM_001368275.1:c.-58+975G>C	NP_001355204.1:n.-58+975G>C
NR_160738.1:n.1046G>C
NR_160739.1:n.71+975G>C
NR_160740.1:n.1046G>C
NR_160741.1:n.1046G>C
NR_160742.1:n.1046G>C