Canonical Allele Identifier: CA2657502279

Gene: TUBGCP6

Linked Data

• gnomAD v4: 22-50224711-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50224711A>C , CM000684.2:g.50224711A>C	GRCh38
NC_000022.10:g.50663140A>C , CM000684.1:g.50663140A>C	GRCh37
NC_000022.9:g.49005267A>C	NCBI36
NG_032160.1:g.25261T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.1984-119T>G MANE Select	ENSP00000248846.5:n.1984-119T>G
ENST00000248846.9:c.1984-119T>G	ENSP00000248846.5:n.1984-119T>G
ENST00000439308.6:c.1984-119T>G	ENSP00000397387.2:n.1984-119T>G
ENST00000473946.1:n.293-119T>G
ENST00000491449.5:n.291-119T>G
ENST00000498611.5:n.2517-119T>G
NM_020461.3:c.1984-119T>G	NP_065194.2:n.1984-119T>G
XR_938347.1:n.2549-119T>G
XR_938348.1:n.2549-119T>G
XR_001755343.2:n.2553-119T>G
XR_001755344.2:n.2553-119T>G
XR_002958720.1:n.2553-119T>G
XR_938347.2:n.2553-119T>G
NM_020461.4:c.1984-119T>G MANE Select	NP_065194.3:n.1984-119T>G