Canonical Allele Identifier: CA412184959

Gene: TUBGCP6

Linked Data

• dbSNP Id: rs762265703
• gnomAD v4: 22-50221268-C-T
• MyVariant Identifiers: chr22:g.50659697C>T (hg19) ; chr22:g.50221268C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50221268C>T , CM000684.2:g.50221268C>T	GRCh38
NC_000022.10:g.50659697C>T , CM000684.1:g.50659697C>T	GRCh37
NC_000022.9:g.49001824C>T	NCBI36
NG_032160.1:g.28704G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3091G>A MANE Select	ENSP00000248846.5:p.Gly1031Arg
ENST00000248846.9:c.3091G>A	ENSP00000248846.5:p.Gly1031Arg
ENST00000439308.6:c.3091G>A	ENSP00000397387.2:p.Gly1031Arg
ENST00000491449.5:n.1398G>A
ENST00000498611.5:n.3617+7G>A
NM_020461.3:c.3091G>A	NP_065194.2:p.Gly1031Arg
XR_938347.1:n.3656G>A
XR_938348.1:n.3049+760G>A
XR_001755343.2:n.3660G>A
XR_001755344.2:n.3660G>A
XR_002958720.1:n.3053+760G>A
XR_938347.2:n.3660G>A
NM_020461.4:c.3091G>A MANE Select	NP_065194.3:p.Gly1031Arg