Canonical Allele Identifier: CA412184984

Gene: TUBGCP6

Linked Data

• dbSNP Id: rs1602510206
• MyVariant Identifiers: chr22:g.50659702A>C (hg19) ; chr22:g.50221273A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50221273A>C , CM000684.2:g.50221273A>C	GRCh38
NC_000022.10:g.50659702A>C , CM000684.1:g.50659702A>C	GRCh37
NC_000022.9:g.49001829A>C	NCBI36
NG_032160.1:g.28699T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3086T>G MANE Select	ENSP00000248846.5:p.Val1029Gly
ENST00000248846.9:c.3086T>G	ENSP00000248846.5:p.Val1029Gly
ENST00000439308.6:c.3086T>G	ENSP00000397387.2:p.Val1029Gly
ENST00000491449.5:n.1393T>G
ENST00000498611.5:n.3617+2T>G
NM_020461.3:c.3086T>G	NP_065194.2:p.Val1029Gly
XR_938347.1:n.3651T>G
XR_938348.1:n.3049+755T>G
XR_001755343.2:n.3655T>G
XR_001755344.2:n.3655T>G
XR_002958720.1:n.3053+755T>G
XR_938347.2:n.3655T>G
NM_020461.4:c.3086T>G MANE Select	NP_065194.3:p.Val1029Gly