Canonical Allele Identifier: CA2573158237

Gene: TUBGCP6

Linked Data

• ClinVar Variation Id: 1559280
• ClinVar RCV Id: RCV002202727
• dbSNP Id: rs2147185345

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50224492A>G , CM000684.2:g.50224492A>G	GRCh38
NC_000022.10:g.50662921A>G , CM000684.1:g.50662921A>G	GRCh37
NC_000022.9:g.49005048A>G	NCBI36
NG_032160.1:g.25480T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.2065+19T>C MANE Select	ENSP00000248846.5:n.2065+19T>C
ENST00000248846.9:c.2065+19T>C	ENSP00000248846.5:n.2065+19T>C
ENST00000439308.6:c.2065+19T>C	ENSP00000397387.2:n.2065+19T>C
ENST00000473946.1:n.374+19T>C
ENST00000489511.5:n.82+19T>C
ENST00000491449.5:n.372+19T>C
ENST00000498611.5:n.2598+19T>C
NM_020461.3:c.2065+19T>C	NP_065194.2:n.2065+19T>C
XR_938347.1:n.2630+19T>C
XR_938348.1:n.2630+19T>C
XR_001755343.2:n.2634+19T>C
XR_001755344.2:n.2634+19T>C
XR_002958720.1:n.2634+19T>C
XR_938347.2:n.2634+19T>C
NM_020461.4:c.2065+19T>C MANE Select	NP_065194.3:n.2065+19T>C