Canonical Allele Identifier: CA325512552

Gene: TUBGCP6

Linked Data

• dbSNP Id: rs796696509
• gnomAD v4: 22-50221274-C-T
• MyVariant Identifiers: chr22:g.50659703C>T (hg19) ; chr22:g.50221274C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50221274C>T , CM000684.2:g.50221274C>T	GRCh38
NC_000022.10:g.50659703C>T , CM000684.1:g.50659703C>T	GRCh37
NC_000022.9:g.49001830C>T	NCBI36
NG_032160.1:g.28698G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3085G>A MANE Select	ENSP00000248846.5:p.Val1029Met
ENST00000248846.9:c.3085G>A	ENSP00000248846.5:p.Val1029Met
ENST00000439308.6:c.3085G>A	ENSP00000397387.2:p.Val1029Met
ENST00000491449.5:n.1392G>A
ENST00000498611.5:n.3617+1G>A
NM_020461.3:c.3085G>A	NP_065194.2:p.Val1029Met
XR_938347.1:n.3650G>A
XR_938348.1:n.3049+754G>A
XR_001755343.2:n.3654G>A
XR_001755344.2:n.3654G>A
XR_002958720.1:n.3053+754G>A
XR_938347.2:n.3654G>A
NM_020461.4:c.3085G>A MANE Select	NP_065194.3:p.Val1029Met