Canonical Allele Identifier: CA515377113

Gene: TUBGCP6

Linked Data

• dbSNP Id: rs2064578332
• gnomAD v4: 22-50224569-T-C
• MyVariant Identifiers: chr22:g.50662998T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50224569T>C , CM000684.2:g.50224569T>C	GRCh38
NC_000022.10:g.50662998T>C , CM000684.1:g.50662998T>C	GRCh37
NC_000022.9:g.49005125T>C	NCBI36
NG_032160.1:g.25403A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.2007A>G MANE Select	ENSP00000248846.5:p.Lys669=
ENST00000248846.9:c.2007A>G	ENSP00000248846.5:p.Lys669=
ENST00000439308.6:c.2007A>G	ENSP00000397387.2:p.Lys669=
ENST00000473946.1:n.316A>G
ENST00000489511.5:n.24A>G
ENST00000491449.5:n.314A>G
ENST00000498611.5:n.2540A>G
NM_020461.3:c.2007A>G	NP_065194.2:p.Lys669=
XR_938347.1:n.2572A>G
XR_938348.1:n.2572A>G
XR_001755343.2:n.2576A>G
XR_001755344.2:n.2576A>G
XR_002958720.1:n.2576A>G
XR_938347.2:n.2576A>G
NM_020461.4:c.2007A>G MANE Select	NP_065194.3:p.Lys669=