Canonical Allele Identifier: CA412178599

Gene: TUBGCP6

Linked Data

• dbSNP Id: rs1399266233
• gnomAD v2: 22-50659013-C-T
• gnomAD v3: 22-50220584-C-T
• gnomAD v4: 22-50220584-C-T
• MyVariant Identifiers: chr22:g.50659013C>T (hg19) ; chr22:g.50220584C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220584C>T , CM000684.2:g.50220584C>T	GRCh38
NC_000022.10:g.50659013C>T , CM000684.1:g.50659013C>T	GRCh37
NC_000022.9:g.49001140C>T	NCBI36
NG_032160.1:g.29388G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3775G>A MANE Select	ENSP00000248846.5:p.Val1259Met
ENST00000248846.9:c.3775G>A	ENSP00000248846.5:p.Val1259Met
ENST00000439308.6:c.3775G>A	ENSP00000397387.2:p.Val1259Met
ENST00000491449.5:n.2082G>A
ENST00000498611.5:n.3618-569G>A
NM_020461.3:c.3775G>A	NP_065194.2:p.Val1259Met
XR_938347.1:n.4340G>A
XR_938348.1:n.3050-569G>A
XR_001755343.2:n.4344G>A
XR_001755344.2:n.4344G>A
XR_002958720.1:n.3054-569G>A
XR_938347.2:n.4344G>A
NM_020461.4:c.3775G>A MANE Select	NP_065194.3:p.Val1259Met