Canonical Allele Identifier: CA515376881

Gene: TUBGCP6

Linked Data

• MyVariant Identifiers: chr22:g.50662818A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50224389A>G , CM000684.2:g.50224389A>G	GRCh38
NC_000022.10:g.50662818A>G , CM000684.1:g.50662818A>G	GRCh37
NC_000022.9:g.49004945A>G	NCBI36
NG_032160.1:g.25583T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.2097T>C MANE Select	ENSP00000248846.5:p.Asp699=
ENST00000248846.9:c.2097T>C	ENSP00000248846.5:p.Asp699=
ENST00000439308.6:c.2097T>C	ENSP00000397387.2:p.Asp699=
ENST00000473946.1:n.406T>C
ENST00000489511.5:n.114T>C
ENST00000491449.5:n.404T>C
ENST00000498611.5:n.2630T>C
NM_020461.3:c.2097T>C	NP_065194.2:p.Asp699=
XR_938347.1:n.2662T>C
XR_938348.1:n.2662T>C
XR_001755343.2:n.2666T>C
XR_001755344.2:n.2666T>C
XR_002958720.1:n.2666T>C
XR_938347.2:n.2666T>C
NM_020461.4:c.2097T>C MANE Select	NP_065194.3:p.Asp699=