Canonical Allele Identifier: CA325464137

Gene: TUBGCP6

Linked Data

• dbSNP Id: rs987484950
• gnomAD v4: 22-50224478-G-C
• MyVariant Identifiers: chr22:g.50662907G>C (hg19) ; chr22:g.50224478G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50224478G>C , CM000684.2:g.50224478G>C	GRCh38
NC_000022.10:g.50662907G>C , CM000684.1:g.50662907G>C	GRCh37
NC_000022.9:g.49005034G>C	NCBI36
NG_032160.1:g.25494C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.2065+33C>G MANE Select	ENSP00000248846.5:n.2065+33C>G
ENST00000248846.9:c.2065+33C>G	ENSP00000248846.5:n.2065+33C>G
ENST00000439308.6:c.2065+33C>G	ENSP00000397387.2:n.2065+33C>G
ENST00000473946.1:n.374+33C>G
ENST00000489511.5:n.82+33C>G
ENST00000491449.5:n.372+33C>G
ENST00000498611.5:n.2598+33C>G
NM_020461.3:c.2065+33C>G	NP_065194.2:n.2065+33C>G
XR_938347.1:n.2630+33C>G
XR_938348.1:n.2630+33C>G
XR_001755343.2:n.2634+33C>G
XR_001755344.2:n.2634+33C>G
XR_002958720.1:n.2634+33C>G
XR_938347.2:n.2634+33C>G
NM_020461.4:c.2065+33C>G MANE Select	NP_065194.3:n.2065+33C>G