Canonical Allele Identifier: CA412180408

Gene: TUBGCP6

Linked Data

• gnomAD v4: 22-50220625-A-G
• MyVariant Identifiers: chr22:g.50659054A>G (hg19) ; chr22:g.50220625A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220625A>G , CM000684.2:g.50220625A>G	GRCh38
NC_000022.10:g.50659054A>G , CM000684.1:g.50659054A>G	GRCh37
NC_000022.9:g.49001181A>G	NCBI36
NG_032160.1:g.29347T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3734T>C MANE Select	ENSP00000248846.5:p.Val1245Ala
ENST00000248846.9:c.3734T>C	ENSP00000248846.5:p.Val1245Ala
ENST00000439308.6:c.3734T>C	ENSP00000397387.2:p.Val1245Ala
ENST00000491449.5:n.2041T>C
ENST00000498611.5:n.3618-610T>C
NM_020461.3:c.3734T>C	NP_065194.2:p.Val1245Ala
XR_938347.1:n.4299T>C
XR_938348.1:n.3050-610T>C
XR_001755343.2:n.4303T>C
XR_001755344.2:n.4303T>C
XR_002958720.1:n.3054-610T>C
XR_938347.2:n.4303T>C
NM_020461.4:c.3734T>C MANE Select	NP_065194.3:p.Val1245Ala