Canonical Allele Identifier: CA412102836
Gene: TUBGCP6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.50662768T>G (hg19) chr22:g.50224339T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50224339T>G , CM000684.2:g.50224339T>G GRCh38
NC_000022.10:g.50662768T>G , CM000684.1:g.50662768T>G GRCh37
NC_000022.9:g.49004895T>G NCBI36
NG_032160.1:g.25633A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.2147A>C MANE Select ENSP00000248846.5:p.Asp716Ala
ENST00000248846.9:c.2147A>C ENSP00000248846.5:p.Asp716Ala
ENST00000439308.6:c.2147A>C ENSP00000397387.2:p.Asp716Ala
ENST00000473946.1:n.456A>C
ENST00000489511.5:n.164A>C
ENST00000491449.5:n.454A>C
ENST00000498611.5:n.2680A>C
NM_020461.3:c.2147A>C NP_065194.2:p.Asp716Ala
XR_938347.1:n.2712A>C
XR_938348.1:n.2712A>C
XR_001755343.2:n.2716A>C
XR_001755344.2:n.2716A>C
XR_002958720.1:n.2716A>C
XR_938347.2:n.2716A>C
NM_020461.4:c.2147A>C MANE Select NP_065194.3:p.Asp716Ala
Search 100 bp 5'
Search 100 bp 3'