Canonical Allele Identifier: CA325512242

Gene: TUBGCP6

Linked Data

• dbSNP Id: rs1039396284
• gnomAD v3: 22-50220885-C-G
• gnomAD v4: 22-50220885-C-G
• MyVariant Identifiers: chr22:g.50659314C>G (hg19) ; chr22:g.50220885C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220885C>G , CM000684.2:g.50220885C>G	GRCh38
NC_000022.10:g.50659314C>G , CM000684.1:g.50659314C>G	GRCh37
NC_000022.9:g.49001441C>G	NCBI36
NG_032160.1:g.29087G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3474G>C MANE Select	ENSP00000248846.5:p.Trp1158Cys
ENST00000248846.9:c.3474G>C	ENSP00000248846.5:p.Trp1158Cys
ENST00000439308.6:c.3474G>C	ENSP00000397387.2:p.Trp1158Cys
ENST00000491449.5:n.1781G>C
ENST00000498611.5:n.3617+390G>C
NM_020461.3:c.3474G>C	NP_065194.2:p.Trp1158Cys
XR_938347.1:n.4039G>C
XR_938348.1:n.3050-870G>C
XR_001755343.2:n.4043G>C
XR_001755344.2:n.4043G>C
XR_002958720.1:n.3054-870G>C
XR_938347.2:n.4043G>C
NM_020461.4:c.3474G>C MANE Select	NP_065194.3:p.Trp1158Cys