Canonical Allele Identifier: CA2410730849
Gene: TUBGCP6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50221319G= , CM000684.2:g.50221319G= GRCh38
NC_000022.10:g.50659748G= , CM000684.1:g.50659748G= GRCh37
NC_000022.9:g.49001875G= NCBI36
NG_032160.1:g.28653C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.3040C= MANE Select ENSP00000248846.5:p.Leu1014=
ENST00000248846.9:c.3040C= ENSP00000248846.5:p.Leu1014=
ENST00000439308.6:c.3040C= ENSP00000397387.2:p.Leu1014=
ENST00000491449.5:n.1347C=
ENST00000498611.5:n.3573C=
NM_020461.3:c.3040C= NP_065194.2:p.Leu1014=
XR_938347.1:n.3605C=
XR_938348.1:n.3049+709C=
XR_001755343.2:n.3609C=
XR_001755344.2:n.3609C=
XR_002958720.1:n.3053+709C=
XR_938347.2:n.3609C=
NM_020461.4:c.3040C= MANE Select NP_065194.3:p.Leu1014=