Canonical Allele Identifier: CA412111941

Gene: TUBGCP6

Linked Data

• gnomAD v4: 22-50240223-A-G
• MyVariant Identifiers: chr22:g.50678652A>G (hg19) ; chr22:g.50240223A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50240223A>G , CM000684.2:g.50240223A>G	GRCh38
NC_000022.10:g.50678652A>G , CM000684.1:g.50678652A>G	GRCh37
NC_000022.9:g.49020779A>G	NCBI36
NG_032160.1:g.9749T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248846.10:c.886T>C MANE Select	ENSP00000248846.5:p.Cys296Arg
ENST00000248846.9:c.886T>C	ENSP00000248846.5:p.Cys296Arg
ENST00000434349.1:c.136+2T>C
ENST00000439308.6:c.886T>C	ENSP00000397387.2:p.Cys296Arg
ENST00000498611.5:n.1419T>C
NM_020461.3:c.886T>C	NP_065194.2:p.Cys296Arg
XR_938347.1:n.1451T>C
XR_938348.1:n.1451T>C
XR_001755343.2:n.1455T>C
XR_001755344.2:n.1455T>C
XR_002958720.1:n.1455T>C
XR_938347.2:n.1455T>C
NM_020461.4:c.886T>C MANE Select	NP_065194.3:p.Cys296Arg