Canonical Allele Identifier: CA5653154

Gene: TWNK

Linked Data

• ClinVar Variation Id: 298500
• ClinVar RCV Id: RCV000273839 ; RCV000296339 ; RCV000331424 ; RCV000388304 ; RCV000994494 ; RCV004021460
• dbSNP Id: rs62626271
• ExAC: 10:102749009 G / A
• gnomAD v2: 10-102749009-G-A
• gnomAD v3: 10-100989252-G-A
• gnomAD v4: 10-100989252-G-A
• MyVariant Identifiers: chr10:g.102749009G>A (hg19) ; chr10:g.100989252G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100989252G>A , CM000672.2:g.100989252G>A	GRCh38
NC_000010.10:g.102749009G>A , CM000672.1:g.102749009G>A	GRCh37
NC_000010.9:g.102738999G>A	NCBI36
NG_011646.1:g.3264C>T
NG_012624.1:g.6717G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.1042G>A MANE Select	ENSP00000309595.2:p.Gly348Arg
ENST00000370228.2:c.1042G>A	ENSP00000359248.1:p.Gly348Arg
ENST00000643860.1:c.1042G>A	ENSP00000494389.1:p.Gly348Arg
ENST00000646226.1:n.59-392G>A
ENST00000650396.1:c.65G>A
ENST00000311916.6:c.1042G>A	ENSP00000309595.2:p.Gly348Arg
ENST00000370228.1:c.1042G>A	ENSP00000359248.1:p.Gly348Arg
ENST00000459764.1:n.87-392G>A
ENST00000473656.5:n.65-392G>A
ENST00000476766.5:n.192-454G>A
NM_001163812.1:c.1042G>A	NP_001157284.1:p.Gly348Arg
NM_001163813.1:c.-119-392G>A	NP_001157285.1:n.-119-392G>A
NM_001163814.1:c.-119-392G>A	NP_001157286.1:n.-119-392G>A
NM_021830.4:c.1042G>A	NP_068602.2:p.Gly348Arg
XM_011539975.1:c.-57-454G>A	XP_011538277.1:n.-57-454G>A
XR_945788.1:n.1875G>A
XM_011539975.2:c.-57-454G>A	XP_011538277.1:n.-57-454G>A
XM_017016437.1:c.-259G>A	XP_016871926.1:n.-259G>A
XR_001747142.1:n.1216G>A
XR_001747144.1:n.1216G>A
XR_002956991.1:n.1216G>A
XR_945788.2:n.1216G>A
NM_021830.5:c.1042G>A MANE Select	NP_068602.2:p.Gly348Arg
NM_001163812.2:c.1042G>A	NP_001157284.1:p.Gly348Arg
NM_001163813.2:c.-119-392G>A	NP_001157285.1:n.-119-392G>A
NM_001163814.2:c.-119-392G>A	NP_001157286.1:n.-119-392G>A
NM_001368275.1:c.-57-454G>A	NP_001355204.1:n.-57-454G>A
NR_160738.1:n.1710G>A
NR_160739.1:n.72-392G>A
NR_160740.1:n.1710G>A
NR_160741.1:n.1710G>A
NR_160742.1:n.1710G>A