Canonical Allele Identifier: CA325512521

Gene: TUBGCP6

Linked Data

• dbSNP Id: rs867706410
• MyVariant Identifiers: chr22:g.50659678C>T (hg19) ; chr22:g.50221249C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50221249C>T , CM000684.2:g.50221249C>T	GRCh38
NC_000022.10:g.50659678C>T , CM000684.1:g.50659678C>T	GRCh37
NC_000022.9:g.49001805C>T	NCBI36
NG_032160.1:g.28723G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3110G>A MANE Select	ENSP00000248846.5:p.Gly1037Glu
ENST00000248846.9:c.3110G>A	ENSP00000248846.5:p.Gly1037Glu
ENST00000439308.6:c.3110G>A	ENSP00000397387.2:p.Gly1037Glu
ENST00000491449.5:n.1417G>A
ENST00000498611.5:n.3617+26G>A
NM_020461.3:c.3110G>A	NP_065194.2:p.Gly1037Glu
XR_938347.1:n.3675G>A
XR_938348.1:n.3049+779G>A
XR_001755343.2:n.3679G>A
XR_001755344.2:n.3679G>A
XR_002958720.1:n.3053+779G>A
XR_938347.2:n.3679G>A
NM_020461.4:c.3110G>A MANE Select	NP_065194.3:p.Gly1037Glu