Canonical Allele Identifier: CA212963954

Gene: TWNK

Linked Data

• dbSNP Id: rs921572437
• gnomAD v2: 10-102750425-G-A
• gnomAD v3: 10-100990668-G-A
• gnomAD v4: 10-100990668-G-A
• MyVariant Identifiers: chr10:g.102750425G>A (hg19) ; chr10:g.100990668G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100990668G>A , CM000672.2:g.100990668G>A	GRCh38
NC_000010.10:g.102750425G>A , CM000672.1:g.102750425G>A	GRCh37
NC_000010.9:g.102740415G>A	NCBI36
NG_011646.1:g.1848C>T
NG_012624.1:g.8133G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.1592+125G>A MANE Select	ENSP00000309595.2:n.1592+125G>A
ENST00000370228.2:c.1592+125G>A	ENSP00000359248.1:n.1592+125G>A
ENST00000643860.1:c.*116+5G>A	ENSP00000494389.1:n.*116+5G>A
ENST00000646226.1:n.407+125G>A
ENST00000647109.1:c.251+125G>A
ENST00000650396.1:c.673+5G>A
ENST00000311916.6:c.1592+125G>A	ENSP00000309595.2:n.1592+125G>A
ENST00000370228.1:c.1592+125G>A	ENSP00000359248.1:n.1592+125G>A
ENST00000473656.5:n.413+125G>A
ENST00000476766.5:n.478+125G>A
NM_001163812.1:c.1592+125G>A	NP_001157284.1:n.1592+125G>A
NM_001163813.1:c.230+125G>A	NP_001157285.1:n.230+125G>A
NM_001163814.1:c.230+125G>A	NP_001157286.1:n.230+125G>A
NM_021830.4:c.1592+125G>A	NP_068602.2:n.1592+125G>A
XM_011539974.1:c.230+125G>A	XP_011538276.1:n.230+125G>A
XM_011539975.1:c.230+125G>A	XP_011538277.1:n.230+125G>A
XR_945788.1:n.2363+125G>A
XM_011539975.2:c.230+125G>A	XP_011538277.1:n.230+125G>A
XM_017016437.1:c.230+125G>A	XP_016871926.1:n.230+125G>A
XR_001747142.1:n.1886+5G>A
XR_001747144.1:n.1824+5G>A
XR_002956991.1:n.1704+125G>A
XR_945788.2:n.1704+125G>A
NM_021830.5:c.1592+125G>A MANE Select	NP_068602.2:n.1592+125G>A
NM_001163812.2:c.1592+125G>A	NP_001157284.1:n.1592+125G>A
NM_001163813.2:c.230+125G>A	NP_001157285.1:n.230+125G>A
NM_001163814.2:c.230+125G>A	NP_001157286.1:n.230+125G>A
NM_001368275.1:c.230+125G>A	NP_001355204.1:n.230+125G>A
NR_160738.1:n.2380+5G>A
NR_160739.1:n.540+5G>A
NR_160740.1:n.2198+125G>A
NR_160741.1:n.2198+125G>A
NR_160742.1:n.2318+5G>A