Canonical Allele Identifier: CA412182476

Gene: TUBGCP6

Linked Data

• gnomAD v3: 22-50220921-C-G
• gnomAD v4: 22-50220921-C-G
• MyVariant Identifiers: chr22:g.50659350C>G (hg19) ; chr22:g.50220921C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220921C>G , CM000684.2:g.50220921C>G	GRCh38
NC_000022.10:g.50659350C>G , CM000684.1:g.50659350C>G	GRCh37
NC_000022.9:g.49001477C>G	NCBI36
NG_032160.1:g.29051G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3438G>C MANE Select	ENSP00000248846.5:p.Glu1146Asp
ENST00000248846.9:c.3438G>C	ENSP00000248846.5:p.Glu1146Asp
ENST00000439308.6:c.3438G>C	ENSP00000397387.2:p.Glu1146Asp
ENST00000491449.5:n.1745G>C
ENST00000498611.5:n.3617+354G>C
NM_020461.3:c.3438G>C	NP_065194.2:p.Glu1146Asp
XR_938347.1:n.4003G>C
XR_938348.1:n.3050-906G>C
XR_001755343.2:n.4007G>C
XR_001755344.2:n.4007G>C
XR_002958720.1:n.3054-906G>C
XR_938347.2:n.4007G>C
NM_020461.4:c.3438G>C MANE Select	NP_065194.3:p.Glu1146Asp