Canonical Allele Identifier: CA412102843
Gene: TUBGCP6 HGNC NCBI

Linked Data

gnomAD v4: 22-50224340-C-T
MyVariant Identifiers: chr22:g.50662769C>T (hg19) chr22:g.50224340C>T (hg38)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.2146G>A MANE Select ENSP00000248846.5:p.Asp716Asn
ENST00000248846.9:c.2146G>A ENSP00000248846.5:p.Asp716Asn
ENST00000439308.6:c.2146G>A ENSP00000397387.2:p.Asp716Asn
ENST00000473946.1:n.455G>A
ENST00000489511.5:n.163G>A
ENST00000491449.5:n.453G>A
ENST00000498611.5:n.2679G>A
NM_020461.3:c.2146G>A NP_065194.2:p.Asp716Asn
XR_938347.1:n.2711G>A
XR_938348.1:n.2711G>A
XR_001755343.2:n.2715G>A
XR_001755344.2:n.2715G>A
XR_002958720.1:n.2715G>A
XR_938347.2:n.2715G>A
NM_020461.4:c.2146G>A MANE Select NP_065194.3:p.Asp716Asn
Search 100 bp 5'
Search 100 bp 3'