Canonical Allele Identifier: CA412102839
Gene: TUBGCP6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.50662769C>A (hg19) chr22:g.50224340C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50224340C>A , CM000684.2:g.50224340C>A GRCh38
NC_000022.10:g.50662769C>A , CM000684.1:g.50662769C>A GRCh37
NC_000022.9:g.49004896C>A NCBI36
NG_032160.1:g.25632G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.2146G>T MANE Select ENSP00000248846.5:p.Asp716Tyr
ENST00000248846.9:c.2146G>T ENSP00000248846.5:p.Asp716Tyr
ENST00000439308.6:c.2146G>T ENSP00000397387.2:p.Asp716Tyr
ENST00000473946.1:n.455G>T
ENST00000489511.5:n.163G>T
ENST00000491449.5:n.453G>T
ENST00000498611.5:n.2679G>T
NM_020461.3:c.2146G>T NP_065194.2:p.Asp716Tyr
XR_938347.1:n.2711G>T
XR_938348.1:n.2711G>T
XR_001755343.2:n.2715G>T
XR_001755344.2:n.2715G>T
XR_002958720.1:n.2715G>T
XR_938347.2:n.2715G>T
NM_020461.4:c.2146G>T MANE Select NP_065194.3:p.Asp716Tyr
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