Canonical Allele Identifier: CA5653094

Gene: TWNK

Linked Data

• dbSNP Id: rs750584888
• ExAC: 10:102748572 G / A
• gnomAD v2: 10-102748572-G-A
• gnomAD v4: 10-100988815-G-A
• MyVariant Identifiers: chr10:g.102748572G>A (hg19) ; chr10:g.100988815G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100988815G>A , CM000672.2:g.100988815G>A	GRCh38
NC_000010.10:g.102748572G>A , CM000672.1:g.102748572G>A	GRCh37
NC_000010.9:g.102738562G>A	NCBI36
NG_011646.1:g.3701C>T
NG_012624.1:g.6280G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.605G>A MANE Select	ENSP00000309595.2:p.Arg202His
ENST00000370228.2:c.605G>A	ENSP00000359248.1:p.Arg202His
ENST00000643860.1:c.605G>A	ENSP00000494389.1:p.Arg202His
ENST00000646226.1:n.59-829G>A
ENST00000311916.6:c.605G>A	ENSP00000309595.2:p.Arg202His
ENST00000370228.1:c.605G>A	ENSP00000359248.1:p.Arg202His
ENST00000459764.1:n.87-829G>A
ENST00000473656.5:n.65-829G>A
ENST00000476766.5:n.192-891G>A
NM_001163812.1:c.605G>A	NP_001157284.1:p.Arg202His
NM_001163813.1:c.-119-829G>A	NP_001157285.1:n.-119-829G>A
NM_001163814.1:c.-119-829G>A	NP_001157286.1:n.-119-829G>A
NM_021830.4:c.605G>A	NP_068602.2:p.Arg202His
XM_011539975.1:c.-57-891G>A	XP_011538277.1:n.-57-891G>A
XR_945788.1:n.1438G>A
XM_011539975.2:c.-57-891G>A	XP_011538277.1:n.-57-891G>A
XM_017016437.1:c.-696G>A	XP_016871926.1:n.-696G>A
XR_001747142.1:n.779G>A
XR_001747144.1:n.779G>A
XR_002956991.1:n.779G>A
XR_945788.2:n.779G>A
NM_021830.5:c.605G>A MANE Select	NP_068602.2:p.Arg202His
NM_001163812.2:c.605G>A	NP_001157284.1:p.Arg202His
NM_001163813.2:c.-119-829G>A	NP_001157285.1:n.-119-829G>A
NM_001163814.2:c.-119-829G>A	NP_001157286.1:n.-119-829G>A
NM_001368275.1:c.-57-891G>A	NP_001355204.1:n.-57-891G>A
NR_160738.1:n.1273G>A
NR_160739.1:n.72-829G>A
NR_160740.1:n.1273G>A
NR_160741.1:n.1273G>A
NR_160742.1:n.1273G>A