Canonical Allele Identifier: CA515376512

Gene: TUBGCP6

Linked Data

• ClinVar Variation Id: 2443290
• ClinVar RCV Id: RCV003151682
• dbSNP Id: rs368098807
• gnomAD v4: 22-50221269-T-G
• MyVariant Identifiers: chr22:g.50659698T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50221269T>G , CM000684.2:g.50221269T>G	GRCh38
NC_000022.10:g.50659698T>G , CM000684.1:g.50659698T>G	GRCh37
NC_000022.9:g.49001825T>G	NCBI36
NG_032160.1:g.28703A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3090A>C MANE Select	ENSP00000248846.5:p.Ser1030=
ENST00000248846.9:c.3090A>C	ENSP00000248846.5:p.Ser1030=
ENST00000439308.6:c.3090A>C	ENSP00000397387.2:p.Ser1030=
ENST00000491449.5:n.1397A>C
ENST00000498611.5:n.3617+6A>C
NM_020461.3:c.3090A>C	NP_065194.2:p.Ser1030=
XR_938347.1:n.3655A>C
XR_938348.1:n.3049+759A>C
XR_001755343.2:n.3659A>C
XR_001755344.2:n.3659A>C
XR_002958720.1:n.3053+759A>C
XR_938347.2:n.3659A>C
NM_020461.4:c.3090A>C MANE Select	NP_065194.3:p.Ser1030=