Canonical Allele Identifier: CA10308029
Gene: TUBGCP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1095235
ClinVar RCV Id: RCV001416025
dbSNP Id: rs763904689
ExAC: 22:50659617 A / G
gnomAD v2: 22-50659617-A-G
gnomAD v3: 22-50221188-A-G
gnomAD v4: 22-50221188-A-G
COSMIC: COSM6242137
MyVariant Identifiers: chr22:g.50659617A>G (hg19) chr22:g.50221188A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50221188A>G , CM000684.2:g.50221188A>G GRCh38
NC_000022.10:g.50659617A>G , CM000684.1:g.50659617A>G GRCh37
NC_000022.9:g.49001744A>G NCBI36
NG_032160.1:g.28784T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.3171T>C MANE Select ENSP00000248846.5:p.Ser1057=
ENST00000248846.9:c.3171T>C ENSP00000248846.5:p.Ser1057=
ENST00000439308.6:c.3171T>C ENSP00000397387.2:p.Ser1057=
ENST00000491449.5:n.1478T>C
ENST00000498611.5:n.3617+87T>C
NM_020461.3:c.3171T>C NP_065194.2:p.Ser1057=
XR_938347.1:n.3736T>C
XR_938348.1:n.3049+840T>C
XR_001755343.2:n.3740T>C
XR_001755344.2:n.3740T>C
XR_002958720.1:n.3053+840T>C
XR_938347.2:n.3740T>C
NM_020461.4:c.3171T>C MANE Select NP_065194.3:p.Ser1057=
Search 100 bp 5'
Search 100 bp 3'