Canonical Allele Identifier: CA5653011

Gene: TWNK

Linked Data

• ClinVar Variation Id: 426493
• ClinVar RCV Id: RCV000489778 ; RCV001107307 ; RCV001107308 ; RCV001107309 ; RCV001107306
• dbSNP Id: rs767175342
• ExAC: 10:102748023 G / A
• gnomAD v2: 10-102748023-G-A
• gnomAD v3: 10-100988266-G-A
• gnomAD v4: 10-100988266-G-A
• MyVariant Identifiers: chr10:g.102748023G>A (hg19) ; chr10:g.100988266G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100988266G>A , CM000672.2:g.100988266G>A	GRCh38
NC_000010.10:g.102748023G>A , CM000672.1:g.102748023G>A	GRCh37
NC_000010.9:g.102738013G>A	NCBI36
NG_011646.1:g.4250C>T
NG_012624.1:g.5731G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.56G>A MANE Select	ENSP00000309595.2:p.Gly19Glu
ENST00000370228.2:c.56G>A	ENSP00000359248.1:p.Gly19Glu
ENST00000643860.1:c.56G>A	ENSP00000494389.1:p.Gly19Glu
ENST00000646226.1:n.58+653G>A
ENST00000311916.6:c.56G>A	ENSP00000309595.2:p.Gly19Glu
ENST00000370228.1:c.56G>A	ENSP00000359248.1:p.Gly19Glu
ENST00000459764.1:n.86+386G>A
ENST00000473656.5:n.64+653G>A
ENST00000476766.5:n.191+709G>A
NM_001163812.1:c.56G>A	NP_001157284.1:p.Gly19Glu
NM_001163813.1:c.-120+653G>A	NP_001157285.1:n.-120+653G>A
NM_001163814.1:c.-120+653G>A	NP_001157286.1:n.-120+653G>A
NM_021830.4:c.56G>A	NP_068602.2:p.Gly19Glu
XM_011539975.1:c.-58+653G>A	XP_011538277.1:n.-58+653G>A
XR_945788.1:n.889G>A
XM_011539975.2:c.-58+653G>A	XP_011538277.1:n.-58+653G>A
XM_017016437.1:c.-1245G>A	XP_016871926.1:n.-1245G>A
XR_001747142.1:n.230G>A
XR_001747144.1:n.230G>A
XR_002956991.1:n.230G>A
XR_945788.2:n.230G>A
NM_021830.5:c.56G>A MANE Select	NP_068602.2:p.Gly19Glu
NM_001163812.2:c.56G>A	NP_001157284.1:p.Gly19Glu
NM_001163813.2:c.-120+653G>A	NP_001157285.1:n.-120+653G>A
NM_001163814.2:c.-120+653G>A	NP_001157286.1:n.-120+653G>A
NM_001368275.1:c.-58+653G>A	NP_001355204.1:n.-58+653G>A
NR_160738.1:n.724G>A
NR_160739.1:n.71+653G>A
NR_160740.1:n.724G>A
NR_160741.1:n.724G>A
NR_160742.1:n.724G>A