Canonical Allele Identifier: CA2657502258

Gene: TUBGCP6

Linked Data

• gnomAD v4: 22-50224702-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50224702T>C , CM000684.2:g.50224702T>C	GRCh38
NC_000022.10:g.50663131T>C , CM000684.1:g.50663131T>C	GRCh37
NC_000022.9:g.49005258T>C	NCBI36
NG_032160.1:g.25270A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.1984-110A>G MANE Select	ENSP00000248846.5:n.1984-110A>G
ENST00000248846.9:c.1984-110A>G	ENSP00000248846.5:n.1984-110A>G
ENST00000439308.6:c.1984-110A>G	ENSP00000397387.2:n.1984-110A>G
ENST00000473946.1:n.293-110A>G
ENST00000491449.5:n.291-110A>G
ENST00000498611.5:n.2517-110A>G
NM_020461.3:c.1984-110A>G	NP_065194.2:n.1984-110A>G
XR_938347.1:n.2549-110A>G
XR_938348.1:n.2549-110A>G
XR_001755343.2:n.2553-110A>G
XR_001755344.2:n.2553-110A>G
XR_002958720.1:n.2553-110A>G
XR_938347.2:n.2553-110A>G
NM_020461.4:c.1984-110A>G MANE Select	NP_065194.3:n.1984-110A>G