Canonical Allele Identifier: CA10308064
Gene: TUBGCP6 HGNC NCBI

Linked Data

dbSNP Id: rs772032398
ExAC: 22:50659742 C / T
gnomAD v2: 22-50659742-C-T
gnomAD v3: 22-50221313-C-T
gnomAD v4: 22-50221313-C-T
MyVariant Identifiers: chr22:g.50659742C>T (hg19) chr22:g.50221313C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50221313C>T , CM000684.2:g.50221313C>T GRCh38
NC_000022.10:g.50659742C>T , CM000684.1:g.50659742C>T GRCh37
NC_000022.9:g.49001869C>T NCBI36
NG_032160.1:g.28659G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.3046G>A MANE Select ENSP00000248846.5:p.Glu1016Lys
ENST00000248846.9:c.3046G>A ENSP00000248846.5:p.Glu1016Lys
ENST00000439308.6:c.3046G>A ENSP00000397387.2:p.Glu1016Lys
ENST00000491449.5:n.1353G>A
ENST00000498611.5:n.3579G>A
NM_020461.3:c.3046G>A NP_065194.2:p.Glu1016Lys
XR_938347.1:n.3611G>A
XR_938348.1:n.3049+715G>A
XR_001755343.2:n.3615G>A
XR_001755344.2:n.3615G>A
XR_002958720.1:n.3053+715G>A
XR_938347.2:n.3615G>A
NM_020461.4:c.3046G>A MANE Select NP_065194.3:p.Glu1016Lys
Search 100 bp 5'
Search 100 bp 3'