Canonical Allele Identifier: CA412180689

Gene: TUBGCP6

Linked Data

• dbSNP Id: rs765018606
• gnomAD v4: 22-50220661-G-T
• MyVariant Identifiers: chr22:g.50659090G>T (hg19) ; chr22:g.50220661G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220661G>T , CM000684.2:g.50220661G>T	GRCh38
NC_000022.10:g.50659090G>T , CM000684.1:g.50659090G>T	GRCh37
NC_000022.9:g.49001217G>T	NCBI36
NG_032160.1:g.29311C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3698C>A MANE Select	ENSP00000248846.5:p.Ala1233Asp
ENST00000248846.9:c.3698C>A	ENSP00000248846.5:p.Ala1233Asp
ENST00000439308.6:c.3698C>A	ENSP00000397387.2:p.Ala1233Asp
ENST00000491449.5:n.2005C>A
ENST00000498611.5:n.3617+614C>A
NM_020461.3:c.3698C>A	NP_065194.2:p.Ala1233Asp
XR_938347.1:n.4263C>A
XR_938348.1:n.3050-646C>A
XR_001755343.2:n.4267C>A
XR_001755344.2:n.4267C>A
XR_002958720.1:n.3054-646C>A
XR_938347.2:n.4267C>A
NM_020461.4:c.3698C>A MANE Select	NP_065194.3:p.Ala1233Asp