Canonical Allele Identifier: CA5653055

Gene: TWNK

Linked Data

• dbSNP Id: rs758456031
• ExAC: 10:102748342 C / A
• gnomAD v2: 10-102748342-C-A
• gnomAD v4: 10-100988585-C-A
• MyVariant Identifiers: chr10:g.102748342C>A (hg19) ; chr10:g.100988585C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100988585C>A , CM000672.2:g.100988585C>A	GRCh38
NC_000010.10:g.102748342C>A , CM000672.1:g.102748342C>A	GRCh37
NC_000010.9:g.102738332C>A	NCBI36
NG_011646.1:g.3931G>T
NG_012624.1:g.6050C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.375C>A MANE Select	ENSP00000309595.2:p.Phe125Leu
ENST00000370228.2:c.375C>A	ENSP00000359248.1:p.Phe125Leu
ENST00000643860.1:c.375C>A	ENSP00000494389.1:p.Phe125Leu
ENST00000646226.1:n.58+972C>A
ENST00000311916.6:c.375C>A	ENSP00000309595.2:p.Phe125Leu
ENST00000370228.1:c.375C>A	ENSP00000359248.1:p.Phe125Leu
ENST00000459764.1:n.86+705C>A
ENST00000473656.5:n.64+972C>A
ENST00000476766.5:n.191+1028C>A
NM_001163812.1:c.375C>A	NP_001157284.1:p.Phe125Leu
NM_001163813.1:c.-120+972C>A	NP_001157285.1:n.-120+972C>A
NM_001163814.1:c.-120+972C>A	NP_001157286.1:n.-120+972C>A
NM_021830.4:c.375C>A	NP_068602.2:p.Phe125Leu
XM_011539975.1:c.-58+972C>A	XP_011538277.1:n.-58+972C>A
XR_945788.1:n.1208C>A
XM_011539975.2:c.-58+972C>A	XP_011538277.1:n.-58+972C>A
XM_017016437.1:c.-926C>A	XP_016871926.1:n.-926C>A
XR_001747142.1:n.549C>A
XR_001747144.1:n.549C>A
XR_002956991.1:n.549C>A
XR_945788.2:n.549C>A
NM_021830.5:c.375C>A MANE Select	NP_068602.2:p.Phe125Leu
NM_001163812.2:c.375C>A	NP_001157284.1:p.Phe125Leu
NM_001163813.2:c.-120+972C>A	NP_001157285.1:n.-120+972C>A
NM_001163814.2:c.-120+972C>A	NP_001157286.1:n.-120+972C>A
NM_001368275.1:c.-58+972C>A	NP_001355204.1:n.-58+972C>A
NR_160738.1:n.1043C>A
NR_160739.1:n.71+972C>A
NR_160740.1:n.1043C>A
NR_160741.1:n.1043C>A
NR_160742.1:n.1043C>A