Canonical Allele Identifier: CA515243905

Gene: TUBGCP6

Linked Data

• gnomAD v4: 22-50240214-G-T
• MyVariant Identifiers: chr22:g.50678643G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50240214G>T , CM000684.2:g.50240214G>T	GRCh38
NC_000022.10:g.50678643G>T , CM000684.1:g.50678643G>T	GRCh37
NC_000022.9:g.49020770G>T	NCBI36
NG_032160.1:g.9758C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248846.10:c.895C>A MANE Select	ENSP00000248846.5:p.Arg299=
ENST00000248846.9:c.895C>A	ENSP00000248846.5:p.Arg299=
ENST00000434349.1:c.136+11C>A
ENST00000439308.6:c.895C>A	ENSP00000397387.2:p.Arg299=
ENST00000498611.5:n.1428C>A
NM_020461.3:c.895C>A	NP_065194.2:p.Arg299=
XR_938347.1:n.1460C>A
XR_938348.1:n.1460C>A
XR_001755343.2:n.1464C>A
XR_001755344.2:n.1464C>A
XR_002958720.1:n.1464C>A
XR_938347.2:n.1464C>A
NM_020461.4:c.895C>A MANE Select	NP_065194.3:p.Arg299=