Canonical Allele Identifier: CA10627852

Gene: TWNK

Linked Data

• ClinVar Variation Id: 298484
• ClinVar RCV Id: RCV000278960 ; RCV000336415 ; RCV000351651 ; RCV000403866 ; RCV002292507
• dbSNP Id: rs187213541
• gnomAD v2: 10-102747318-A-G
• gnomAD v3: 10-100987561-A-G
• gnomAD v4: 10-100987561-A-G
• MyVariant Identifiers: chr10:g.102747318A>G (hg19) ; chr10:g.100987561A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100987561A>G , CM000672.2:g.100987561A>G	GRCh38
NC_000010.10:g.102747318A>G , CM000672.1:g.102747318A>G	GRCh37
NC_000010.9:g.102737308A>G	NCBI36
NG_011646.1:g.4955T>C
NG_012624.1:g.5026A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.-650A>G MANE Select	ENSP00000309595.2:n.-650A>G
ENST00000370228.2:c.-650A>G	ENSP00000359248.1:n.-650A>G
ENST00000643860.1:c.-650A>G	ENSP00000494389.1:n.-650A>G
ENST00000646226.1:n.6A>G
ENST00000473656.5:n.12A>G
ENST00000476766.5:n.191+4A>G
NM_001163812.1:c.-650A>G	NP_001157284.1:n.-650A>G
NM_001163813.1:c.-172A>G	NP_001157285.1:n.-172A>G
NM_001163814.1:c.-172A>G	NP_001157286.1:n.-172A>G
NM_021830.4:c.-650A>G	NP_068602.2:n.-650A>G
XR_945788.1:n.184A>G
XM_011539975.2:c.-110A>G	XP_011538277.1:n.-110A>G
NM_021830.5:c.-650A>G MANE Select	NP_068602.2:n.-650A>G
NM_001163812.2:c.-650A>G	NP_001157284.1:n.-650A>G
NM_001163813.2:c.-172A>G	NP_001157285.1:n.-172A>G
NM_001163814.2:c.-172A>G	NP_001157286.1:n.-172A>G
NM_001368275.1:c.-110A>G	NP_001355204.1:n.-110A>G
NR_160738.1:n.19A>G
NR_160739.1:n.19A>G
NR_160740.1:n.19A>G
NR_160741.1:n.19A>G
NR_160742.1:n.19A>G