Canonical Allele Identifier: CA515376259
Gene: TUBGCP6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.50659374G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50220945G>T , CM000684.2:g.50220945G>T GRCh38
NC_000022.10:g.50659374G>T , CM000684.1:g.50659374G>T GRCh37
NC_000022.9:g.49001501G>T NCBI36
NG_032160.1:g.29027C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.3414C>A MANE Select ENSP00000248846.5:p.Ser1138=
ENST00000248846.9:c.3414C>A ENSP00000248846.5:p.Ser1138=
ENST00000439308.6:c.3414C>A ENSP00000397387.2:p.Ser1138=
ENST00000491449.5:n.1721C>A
ENST00000498611.5:n.3617+330C>A
NM_020461.3:c.3414C>A NP_065194.2:p.Ser1138=
XR_938347.1:n.3979C>A
XR_938348.1:n.3050-930C>A
XR_001755343.2:n.3983C>A
XR_001755344.2:n.3983C>A
XR_002958720.1:n.3054-930C>A
XR_938347.2:n.3983C>A
NM_020461.4:c.3414C>A MANE Select NP_065194.3:p.Ser1138=