Canonical Allele Identifier: CA1026639371

Gene: TUBGCP6

Linked Data

• dbSNP Id: rs2064579585
• gnomAD v3: 22-50224658-G-A
• gnomAD v4: 22-50224658-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50224658G>A , CM000684.2:g.50224658G>A	GRCh38
NC_000022.10:g.50663087G>A , CM000684.1:g.50663087G>A	GRCh37
NC_000022.9:g.49005214G>A	NCBI36
NG_032160.1:g.25314C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.1984-66C>T MANE Select	ENSP00000248846.5:n.1984-66C>T
ENST00000248846.9:c.1984-66C>T	ENSP00000248846.5:n.1984-66C>T
ENST00000439308.6:c.1984-66C>T	ENSP00000397387.2:n.1984-66C>T
ENST00000473946.1:n.293-66C>T
ENST00000491449.5:n.291-66C>T
ENST00000498611.5:n.2517-66C>T
NM_020461.3:c.1984-66C>T	NP_065194.2:n.1984-66C>T
XR_938347.1:n.2549-66C>T
XR_938348.1:n.2549-66C>T
XR_001755343.2:n.2553-66C>T
XR_001755344.2:n.2553-66C>T
XR_002958720.1:n.2553-66C>T
XR_938347.2:n.2553-66C>T
NM_020461.4:c.1984-66C>T MANE Select	NP_065194.3:n.1984-66C>T