Canonical Allele Identifier: CA412161842

Gene: TUBGCP6

Linked Data

• MyVariant Identifiers: chr22:g.50656346C>T (hg19) ; chr22:g.50217917C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50217917C>T , CM000684.2:g.50217917C>T	GRCh38
NC_000022.10:g.50656346C>T , CM000684.1:g.50656346C>T	GRCh37
NC_000022.9:g.48998473C>T	NCBI36
NG_032160.1:g.32055G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248846.10:c.5368+1G>A MANE Select	ENSP00000248846.5:n.5368+1G>A
ENST00000248846.9:c.5368+1G>A	ENSP00000248846.5:n.5368+1G>A
ENST00000425018.1:c.1375+1G>A	ENSP00000405979.1:n.1375+1G>A
ENST00000439308.6:c.*945+1G>A	ENSP00000397387.2:n.*945+1G>A
ENST00000491449.5:n.3910+1G>A
ENST00000498611.5:n.5135+1G>A
NM_020461.3:c.5368+1G>A	NP_065194.2:n.5368+1G>A
XR_938347.1:n.5926+1G>A
XR_938348.1:n.4380+1G>A
XR_001755343.2:n.5996+1G>A
XR_001755344.2:n.5989+1G>A
XR_002958720.1:n.4313+1G>A
XR_938347.2:n.5930+1G>A
NM_020461.4:c.5368+1G>A MANE Select	NP_065194.3:n.5368+1G>A