Canonical Allele Identifier: CA412181369

Gene: TUBGCP6

Linked Data

• dbSNP Id: rs777904210
• gnomAD v3: 22-50220746-T-A
• gnomAD v4: 22-50220746-T-A
• MyVariant Identifiers: chr22:g.50659175T>A (hg19) ; chr22:g.50220746T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220746T>A , CM000684.2:g.50220746T>A	GRCh38
NC_000022.10:g.50659175T>A , CM000684.1:g.50659175T>A	GRCh37
NC_000022.9:g.49001302T>A	NCBI36
NG_032160.1:g.29226A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3613A>T MANE Select	ENSP00000248846.5:p.Met1205Leu
ENST00000248846.9:c.3613A>T	ENSP00000248846.5:p.Met1205Leu
ENST00000439308.6:c.3613A>T	ENSP00000397387.2:p.Met1205Leu
ENST00000491449.5:n.1920A>T
ENST00000498611.5:n.3617+529A>T
NM_020461.3:c.3613A>T	NP_065194.2:p.Met1205Leu
XR_938347.1:n.4178A>T
XR_938348.1:n.3050-731A>T
XR_001755343.2:n.4182A>T
XR_001755344.2:n.4182A>T
XR_002958720.1:n.3054-731A>T
XR_938347.2:n.4182A>T
NM_020461.4:c.3613A>T MANE Select	NP_065194.3:p.Met1205Leu