Canonical Allele Identifier: CA325463943

Gene: TUBGCP6

Linked Data

• dbSNP Id: rs946871745
• gnomAD v2: 22-50662713-G-A
• gnomAD v3: 22-50224284-G-A
• gnomAD v4: 22-50224284-G-A
• MyVariant Identifiers: chr22:g.50662713G>A (hg19) ; chr22:g.50224284G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50224284G>A , CM000684.2:g.50224284G>A	GRCh38
NC_000022.10:g.50662713G>A , CM000684.1:g.50662713G>A	GRCh37
NC_000022.9:g.49004840G>A	NCBI36
NG_032160.1:g.25688C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.2155-28C>T MANE Select	ENSP00000248846.5:n.2155-28C>T
ENST00000248846.9:c.2155-28C>T	ENSP00000248846.5:n.2155-28C>T
ENST00000439308.6:c.2155-28C>T	ENSP00000397387.2:n.2155-28C>T
ENST00000473946.1:n.464-28C>T
ENST00000489511.5:n.172-28C>T
ENST00000491449.5:n.462-28C>T
ENST00000498611.5:n.2688-28C>T
NM_020461.3:c.2155-28C>T	NP_065194.2:n.2155-28C>T
XR_938347.1:n.2720-28C>T
XR_938348.1:n.2720-28C>T
XR_001755343.2:n.2724-28C>T
XR_001755344.2:n.2724-28C>T
XR_002958720.1:n.2724-28C>T
XR_938347.2:n.2724-28C>T
NM_020461.4:c.2155-28C>T MANE Select	NP_065194.3:n.2155-28C>T