Canonical Allele Identifier: CA325512289

Gene: TUBGCP6

Linked Data

• dbSNP Id: rs887018694
• gnomAD v3: 22-50220931-C-T
• gnomAD v4: 22-50220931-C-T
• MyVariant Identifiers: chr22:g.50659360C>T (hg19) ; chr22:g.50220931C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220931C>T , CM000684.2:g.50220931C>T	GRCh38
NC_000022.10:g.50659360C>T , CM000684.1:g.50659360C>T	GRCh37
NC_000022.9:g.49001487C>T	NCBI36
NG_032160.1:g.29041G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3428G>A MANE Select	ENSP00000248846.5:p.Arg1143Lys
ENST00000248846.9:c.3428G>A	ENSP00000248846.5:p.Arg1143Lys
ENST00000439308.6:c.3428G>A	ENSP00000397387.2:p.Arg1143Lys
ENST00000491449.5:n.1735G>A
ENST00000498611.5:n.3617+344G>A
NM_020461.3:c.3428G>A	NP_065194.2:p.Arg1143Lys
XR_938347.1:n.3993G>A
XR_938348.1:n.3050-916G>A
XR_001755343.2:n.3997G>A
XR_001755344.2:n.3997G>A
XR_002958720.1:n.3054-916G>A
XR_938347.2:n.3997G>A
NM_020461.4:c.3428G>A MANE Select	NP_065194.3:p.Arg1143Lys