Canonical Allele Identifier: CA5653292

Gene: TWNK

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100990873G>A , CM000672.2:g.100990873G>A	GRCh38
NC_000010.10:g.102750630G>A , CM000672.1:g.102750630G>A	GRCh37
NC_000010.9:g.102740620G>A	NCBI36
NG_011646.1:g.1643C>T
NG_012624.1:g.8338G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_021830.5:c.1597G>A MANE Select	NP_068602.2:p.Ala533Thr
ENST00000311916.8:c.1597G>A MANE Select	ENSP00000309595.2:p.Ala533Thr
NM_001163812.1:c.1597G>A	NP_001157284.1:p.Ala533Thr
NM_001163812.2:c.1597G>A	NP_001157284.1:p.Ala533Thr
NM_001163813.1:c.235G>A	NP_001157285.1:p.Ala79Thr
NM_001163813.2:c.235G>A	NP_001157285.1:p.Ala79Thr
NM_001163814.1:c.235G>A	NP_001157286.1:p.Ala79Thr
NM_001163814.2:c.235G>A	NP_001157286.1:p.Ala79Thr
NM_001368275.1:c.235G>A	NP_001355204.1:p.Ala79Thr
NM_021830.4:c.1597G>A	NP_068602.2:p.Ala533Thr
NR_160738.1:n.2385G>A
NR_160739.1:n.545G>A
NR_160740.1:n.2203G>A
NR_160741.1:n.2203G>A
NR_160742.1:n.2323G>A
ENST00000311916.6:c.1597G>A	ENSP00000309595.2:p.Ala533Thr
ENST00000370228.1:c.1597G>A	ENSP00000359248.1:p.Ala533Thr
ENST00000370228.2:c.1597G>A	ENSP00000359248.1:p.Ala533Thr
ENST00000473656.5:n.418G>A
ENST00000476766.5:n.483G>A
ENST00000643860.1:c.*121G>A	ENSP00000494389.1:n.*121G>A
ENST00000646226.1:n.412G>A
ENST00000647109.1:c.256G>A
ENST00000650396.1:c.678G>A
XM_011539974.1:c.235G>A	XP_011538276.1:p.Ala79Thr
XM_011539975.1:c.235G>A	XP_011538277.1:p.Ala79Thr
XM_011539975.2:c.235G>A	XP_011538277.1:p.Ala79Thr
XM_017016437.1:c.235G>A	XP_016871926.1:p.Ala79Thr
XR_001747142.1:n.1891G>A
XR_001747144.1:n.1829G>A
XR_002956991.1:n.1709G>A
XR_945788.1:n.2368G>A
XR_945788.2:n.1709G>A