Canonical Allele Identifier: CA515376857
Gene: TUBGCP6 HGNC NCBI

Linked Data

dbSNP Id: rs1601589781
MyVariant Identifiers: chr22:g.50662806A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50224377A>G , CM000684.2:g.50224377A>G GRCh38
NC_000022.10:g.50662806A>G , CM000684.1:g.50662806A>G GRCh37
NC_000022.9:g.49004933A>G NCBI36
NG_032160.1:g.25595T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.2109T>C MANE Select ENSP00000248846.5:p.Arg703=
ENST00000248846.9:c.2109T>C ENSP00000248846.5:p.Arg703=
ENST00000439308.6:c.2109T>C ENSP00000397387.2:p.Arg703=
ENST00000473946.1:n.418T>C
ENST00000489511.5:n.126T>C
ENST00000491449.5:n.416T>C
ENST00000498611.5:n.2642T>C
NM_020461.3:c.2109T>C NP_065194.2:p.Arg703=
XR_938347.1:n.2674T>C
XR_938348.1:n.2674T>C
XR_001755343.2:n.2678T>C
XR_001755344.2:n.2678T>C
XR_002958720.1:n.2678T>C
XR_938347.2:n.2678T>C
NM_020461.4:c.2109T>C MANE Select NP_065194.3:p.Arg703=