Canonical Allele Identifier: CA10307055

Gene: TUBGCP6

Linked Data

• dbSNP Id: rs757383120
• ExAC: 22:50656332 C / G
• gnomAD v2: 22-50656332-C-G
• gnomAD v4: 22-50217903-C-G
• MyVariant Identifiers: chr22:g.50656332C>G (hg19) ; chr22:g.50217903C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50217903C>G , CM000684.2:g.50217903C>G	GRCh38
NC_000022.10:g.50656332C>G , CM000684.1:g.50656332C>G	GRCh37
NC_000022.9:g.48998459C>G	NCBI36
NG_032160.1:g.32069G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248846.10:c.5368+15G>C MANE Select	ENSP00000248846.5:n.5368+15G>C
ENST00000248846.9:c.5368+15G>C	ENSP00000248846.5:n.5368+15G>C
ENST00000425018.1:c.1375+15G>C	ENSP00000405979.1:n.1375+15G>C
ENST00000439308.6:c.*945+15G>C	ENSP00000397387.2:n.*945+15G>C
ENST00000491449.5:n.3910+15G>C
ENST00000498611.5:n.5135+15G>C
NM_020461.3:c.5368+15G>C	NP_065194.2:n.5368+15G>C
XR_938347.1:n.5926+15G>C
XR_938348.1:n.4380+15G>C
XR_001755343.2:n.5996+15G>C
XR_001755344.2:n.5989+15G>C
XR_002958720.1:n.4313+15G>C
XR_938347.2:n.5930+15G>C
NM_020461.4:c.5368+15G>C MANE Select	NP_065194.3:n.5368+15G>C