Canonical Allele Identifier: CA412182685

Gene: TUBGCP6

Linked Data

• gnomAD v4: 22-50220951-G-T
• MyVariant Identifiers: chr22:g.50659380G>T (hg19) ; chr22:g.50220951G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220951G>T , CM000684.2:g.50220951G>T	GRCh38
NC_000022.10:g.50659380G>T , CM000684.1:g.50659380G>T	GRCh37
NC_000022.9:g.49001507G>T	NCBI36
NG_032160.1:g.29021C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3408C>A MANE Select	ENSP00000248846.5:p.His1136Gln
ENST00000248846.9:c.3408C>A	ENSP00000248846.5:p.His1136Gln
ENST00000439308.6:c.3408C>A	ENSP00000397387.2:p.His1136Gln
ENST00000491449.5:n.1715C>A
ENST00000498611.5:n.3617+324C>A
NM_020461.3:c.3408C>A	NP_065194.2:p.His1136Gln
XR_938347.1:n.3973C>A
XR_938348.1:n.3050-936C>A
XR_001755343.2:n.3977C>A
XR_001755344.2:n.3977C>A
XR_002958720.1:n.3054-936C>A
XR_938347.2:n.3977C>A
NM_020461.4:c.3408C>A MANE Select	NP_065194.3:p.His1136Gln