Canonical Allele Identifier: CA2410732751

Gene: TUBGCP6

Linked Data

• dbSNP Id: rs2064580689
• gnomAD v4: 22-50224740-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50224740C>G , CM000684.2:g.50224740C>G	GRCh38
NC_000022.10:g.50663169C>G , CM000684.1:g.50663169C>G	GRCh37
NC_000022.9:g.49005296C>G	NCBI36
NG_032160.1:g.25232G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.1984-148G>C MANE Select	ENSP00000248846.5:n.1984-148G>C
ENST00000248846.9:c.1984-148G>C	ENSP00000248846.5:n.1984-148G>C
ENST00000439308.6:c.1984-148G>C	ENSP00000397387.2:n.1984-148G>C
ENST00000473946.1:n.293-148G>C
ENST00000491449.5:n.291-148G>C
ENST00000498611.5:n.2517-148G>C
NM_020461.3:c.1984-148G>C	NP_065194.2:n.1984-148G>C
XR_938347.1:n.2549-148G>C
XR_938348.1:n.2549-148G>C
XR_001755343.2:n.2553-148G>C
XR_001755344.2:n.2553-148G>C
XR_002958720.1:n.2553-148G>C
XR_938347.2:n.2553-148G>C
NM_020461.4:c.1984-148G>C MANE Select	NP_065194.3:n.1984-148G>C