Canonical Allele Identifier: CA754042256

Gene: TUBGCP6

Linked Data

• dbSNP Id: rs1438601256
• gnomAD v3: 22-50224467-A-C
• gnomAD v4: 22-50224467-A-C
• MyVariant Identifiers: chr22:g.50662896A>C (hg19) ; chr22:g.50224467A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50224467A>C , CM000684.2:g.50224467A>C	GRCh38
NC_000022.10:g.50662896A>C , CM000684.1:g.50662896A>C	GRCh37
NC_000022.9:g.49005023A>C	NCBI36
NG_032160.1:g.25505T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.2065+44T>G MANE Select	ENSP00000248846.5:n.2065+44T>G
ENST00000248846.9:c.2065+44T>G	ENSP00000248846.5:n.2065+44T>G
ENST00000439308.6:c.2065+44T>G	ENSP00000397387.2:n.2065+44T>G
ENST00000473946.1:n.374+44T>G
ENST00000489511.5:n.82+44T>G
ENST00000491449.5:n.372+44T>G
ENST00000498611.5:n.2598+44T>G
NM_020461.3:c.2065+44T>G	NP_065194.2:n.2065+44T>G
XR_938347.1:n.2630+44T>G
XR_938348.1:n.2630+44T>G
XR_001755343.2:n.2634+44T>G
XR_001755344.2:n.2634+44T>G
XR_002958720.1:n.2634+44T>G
XR_938347.2:n.2634+44T>G
NM_020461.4:c.2065+44T>G MANE Select	NP_065194.3:n.2065+44T>G