Canonical Allele Identifier: CA595488135

Gene: TWNK

Linked Data

• dbSNP Id: rs1159821619
• gnomAD v2: 10-102750173-C-T
• gnomAD v4: 10-100990416-C-T
• MyVariant Identifiers: chr10:g.102750173C>T (hg19) ; chr10:g.100990416C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100990416C>T , CM000672.2:g.100990416C>T	GRCh38
NC_000010.10:g.102750173C>T , CM000672.1:g.102750173C>T	GRCh37
NC_000010.9:g.102740163C>T	NCBI36
NG_011646.1:g.2100G>A
NG_012624.1:g.7881C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.1485-20C>T MANE Select	ENSP00000309595.2:n.1485-20C>T
ENST00000370228.2:c.1485-20C>T	ENSP00000359248.1:n.1485-20C>T
ENST00000643860.1:c.1485-20C>T	ENSP00000494389.1:n.1485-20C>T
ENST00000646226.1:n.300-20C>T
ENST00000647109.1:c.144-20C>T
ENST00000650396.1:c.446-20C>T
ENST00000311916.6:c.1485-20C>T	ENSP00000309595.2:n.1485-20C>T
ENST00000370228.1:c.1485-20C>T	ENSP00000359248.1:n.1485-20C>T
ENST00000473656.5:n.306-20C>T
ENST00000476766.5:n.371-20C>T
NM_001163812.1:c.1485-20C>T	NP_001157284.1:n.1485-20C>T
NM_001163813.1:c.123-20C>T	NP_001157285.1:n.123-20C>T
NM_001163814.1:c.123-20C>T	NP_001157286.1:n.123-20C>T
NM_021830.4:c.1485-20C>T	NP_068602.2:n.1485-20C>T
XM_011539974.1:c.123-20C>T	XP_011538276.1:n.123-20C>T
XM_011539975.1:c.123-20C>T	XP_011538277.1:n.123-20C>T
XR_945788.1:n.2256-20C>T
XM_011539975.2:c.123-20C>T	XP_011538277.1:n.123-20C>T
XM_017016437.1:c.123-20C>T	XP_016871926.1:n.123-20C>T
XR_001747142.1:n.1659-20C>T
XR_001747144.1:n.1597-20C>T
XR_002956991.1:n.1597-20C>T
XR_945788.2:n.1597-20C>T
NM_021830.5:c.1485-20C>T MANE Select	NP_068602.2:n.1485-20C>T
NM_001163812.2:c.1485-20C>T	NP_001157284.1:n.1485-20C>T
NM_001163813.2:c.123-20C>T	NP_001157285.1:n.123-20C>T
NM_001163814.2:c.123-20C>T	NP_001157286.1:n.123-20C>T
NM_001368275.1:c.123-20C>T	NP_001355204.1:n.123-20C>T
NR_160738.1:n.2153-20C>T
NR_160739.1:n.313-20C>T
NR_160740.1:n.2091-20C>T
NR_160741.1:n.2091-20C>T
NR_160742.1:n.2091-20C>T