Canonical Allele Identifier: CA10307781
Gene: TUBGCP6 HGNC NCBI

Linked Data

dbSNP Id: rs752979535

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50220443G>T , CM000684.2:g.50220443G>T GRCh38
NC_000022.10:g.50658872G>T , CM000684.1:g.50658872G>T GRCh37
NC_000022.9:g.49000999G>T NCBI36
NG_032160.1:g.29529C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.3916C>A MANE Select ENSP00000248846.5:p.Leu1306Ile
ENST00000248846.9:c.3916C>A ENSP00000248846.5:p.Leu1306Ile
ENST00000439308.6:c.3916C>A ENSP00000397387.2:p.Leu1306Ile
ENST00000491449.5:n.2223C>A
ENST00000498611.5:n.3618-428C>A
NM_020461.3:c.3916C>A NP_065194.2:p.Leu1306Ile
XR_938347.1:n.4481C>A
XR_938348.1:n.3050-428C>A
XR_001755343.2:n.4485C>A
XR_001755344.2:n.4485C>A
XR_002958720.1:n.3054-428C>A
XR_938347.2:n.4485C>A
NM_020461.4:c.3916C>A MANE Select NP_065194.3:p.Leu1306Ile