Canonical Allele Identifier: CA515376551

Gene: TUBGCP6

Linked Data

• dbSNP Id: rs2064499428
• gnomAD v3: 22-50220480-G-C
• gnomAD v4: 22-50220480-G-C
• MyVariant Identifiers: chr22:g.50658909G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220480G>C , CM000684.2:g.50220480G>C	GRCh38
NC_000022.10:g.50658909G>C , CM000684.1:g.50658909G>C	GRCh37
NC_000022.9:g.49001036G>C	NCBI36
NG_032160.1:g.29492C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3879C>G MANE Select	ENSP00000248846.5:p.Pro1293=
ENST00000248846.9:c.3879C>G	ENSP00000248846.5:p.Pro1293=
ENST00000439308.6:c.3879C>G	ENSP00000397387.2:p.Pro1293=
ENST00000491449.5:n.2186C>G
ENST00000498611.5:n.3618-465C>G
NM_020461.3:c.3879C>G	NP_065194.2:p.Pro1293=
XR_938347.1:n.4444C>G
XR_938348.1:n.3050-465C>G
XR_001755343.2:n.4448C>G
XR_001755344.2:n.4448C>G
XR_002958720.1:n.3054-465C>G
XR_938347.2:n.4448C>G
NM_020461.4:c.3879C>G MANE Select	NP_065194.3:p.Pro1293=