Canonical Allele Identifier: CA515376862
Gene: TUBGCP6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.50662809C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50224380C>T , CM000684.2:g.50224380C>T GRCh38
NC_000022.10:g.50662809C>T , CM000684.1:g.50662809C>T GRCh37
NC_000022.9:g.49004936C>T NCBI36
NG_032160.1:g.25592G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.2106G>A MANE Select ENSP00000248846.5:p.Lys702=
ENST00000248846.9:c.2106G>A ENSP00000248846.5:p.Lys702=
ENST00000439308.6:c.2106G>A ENSP00000397387.2:p.Lys702=
ENST00000473946.1:n.415G>A
ENST00000489511.5:n.123G>A
ENST00000491449.5:n.413G>A
ENST00000498611.5:n.2639G>A
NM_020461.3:c.2106G>A NP_065194.2:p.Lys702=
XR_938347.1:n.2671G>A
XR_938348.1:n.2671G>A
XR_001755343.2:n.2675G>A
XR_001755344.2:n.2675G>A
XR_002958720.1:n.2675G>A
XR_938347.2:n.2675G>A
NM_020461.4:c.2106G>A MANE Select NP_065194.3:p.Lys702=