Canonical Allele Identifier: CA378206880

Gene: TWNK

Linked Data

• gnomAD v4: 10-100988536-G-A
• MyVariant Identifiers: chr10:g.102748293G>A (hg19) ; chr10:g.100988536G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100988536G>A , CM000672.2:g.100988536G>A	GRCh38
NC_000010.10:g.102748293G>A , CM000672.1:g.102748293G>A	GRCh37
NC_000010.9:g.102738283G>A	NCBI36
NG_011646.1:g.3980C>T
NG_012624.1:g.6001G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.326G>A MANE Select	ENSP00000309595.2:p.Gly109Asp
ENST00000370228.2:c.326G>A	ENSP00000359248.1:p.Gly109Asp
ENST00000643860.1:c.326G>A	ENSP00000494389.1:p.Gly109Asp
ENST00000646226.1:n.58+923G>A
ENST00000311916.6:c.326G>A	ENSP00000309595.2:p.Gly109Asp
ENST00000370228.1:c.326G>A	ENSP00000359248.1:p.Gly109Asp
ENST00000459764.1:n.86+656G>A
ENST00000473656.5:n.64+923G>A
ENST00000476766.5:n.191+979G>A
NM_001163812.1:c.326G>A	NP_001157284.1:p.Gly109Asp
NM_001163813.1:c.-120+923G>A	NP_001157285.1:n.-120+923G>A
NM_001163814.1:c.-120+923G>A	NP_001157286.1:n.-120+923G>A
NM_021830.4:c.326G>A	NP_068602.2:p.Gly109Asp
XM_011539975.1:c.-58+923G>A	XP_011538277.1:n.-58+923G>A
XR_945788.1:n.1159G>A
XM_011539975.2:c.-58+923G>A	XP_011538277.1:n.-58+923G>A
XM_017016437.1:c.-975G>A	XP_016871926.1:n.-975G>A
XR_001747142.1:n.500G>A
XR_001747144.1:n.500G>A
XR_002956991.1:n.500G>A
XR_945788.2:n.500G>A
NM_021830.5:c.326G>A MANE Select	NP_068602.2:p.Gly109Asp
NM_001163812.2:c.326G>A	NP_001157284.1:p.Gly109Asp
NM_001163813.2:c.-120+923G>A	NP_001157285.1:n.-120+923G>A
NM_001163814.2:c.-120+923G>A	NP_001157286.1:n.-120+923G>A
NM_001368275.1:c.-58+923G>A	NP_001355204.1:n.-58+923G>A
NR_160738.1:n.994G>A
NR_160739.1:n.71+923G>A
NR_160740.1:n.994G>A
NR_160741.1:n.994G>A
NR_160742.1:n.994G>A