Canonical Allele Identifier: CA412182590

Gene: TUBGCP6

Linked Data

• gnomAD v4: 22-50220940-G-C
• MyVariant Identifiers: chr22:g.50659369G>C (hg19) ; chr22:g.50220940G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220940G>C , CM000684.2:g.50220940G>C	GRCh38
NC_000022.10:g.50659369G>C , CM000684.1:g.50659369G>C	GRCh37
NC_000022.9:g.49001496G>C	NCBI36
NG_032160.1:g.29032C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3419C>G MANE Select	ENSP00000248846.5:p.Ala1140Gly
ENST00000248846.9:c.3419C>G	ENSP00000248846.5:p.Ala1140Gly
ENST00000439308.6:c.3419C>G	ENSP00000397387.2:p.Ala1140Gly
ENST00000491449.5:n.1726C>G
ENST00000498611.5:n.3617+335C>G
NM_020461.3:c.3419C>G	NP_065194.2:p.Ala1140Gly
XR_938347.1:n.3984C>G
XR_938348.1:n.3050-925C>G
XR_001755343.2:n.3988C>G
XR_001755344.2:n.3988C>G
XR_002958720.1:n.3054-925C>G
XR_938347.2:n.3988C>G
NM_020461.4:c.3419C>G MANE Select	NP_065194.3:p.Ala1140Gly