Canonical Allele Identifier: CA10308352

Gene: TUBGCP6

Linked Data

• dbSNP Id: rs530739592
• ExAC: 22:50662831 C / T
• gnomAD v2: 22-50662831-C-T
• gnomAD v3: 22-50224402-C-T
• gnomAD v4: 22-50224402-C-T
• MyVariant Identifiers: chr22:g.50662831C>T (hg19) ; chr22:g.50224402C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50224402C>T , CM000684.2:g.50224402C>T	GRCh38
NC_000022.10:g.50662831C>T , CM000684.1:g.50662831C>T	GRCh37
NC_000022.9:g.49004958C>T	NCBI36
NG_032160.1:g.25570G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.2084G>A MANE Select	ENSP00000248846.5:p.Arg695Gln
ENST00000248846.9:c.2084G>A	ENSP00000248846.5:p.Arg695Gln
ENST00000439308.6:c.2084G>A	ENSP00000397387.2:p.Arg695Gln
ENST00000473946.1:n.393G>A
ENST00000489511.5:n.101G>A
ENST00000491449.5:n.391G>A
ENST00000498611.5:n.2617G>A
NM_020461.3:c.2084G>A	NP_065194.2:p.Arg695Gln
XR_938347.1:n.2649G>A
XR_938348.1:n.2649G>A
XR_001755343.2:n.2653G>A
XR_001755344.2:n.2653G>A
XR_002958720.1:n.2653G>A
XR_938347.2:n.2653G>A
NM_020461.4:c.2084G>A MANE Select	NP_065194.3:p.Arg695Gln