Canonical Allele Identifier: CA325464112

Gene: TUBGCP6

Linked Data

• dbSNP Id: rs776578915
• gnomAD v2: 22-50662900-C-G
• gnomAD v4: 22-50224471-C-G
• MyVariant Identifiers: chr22:g.50662900C>G (hg19) ; chr22:g.50224471C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50224471C>G , CM000684.2:g.50224471C>G	GRCh38
NC_000022.10:g.50662900C>G , CM000684.1:g.50662900C>G	GRCh37
NC_000022.9:g.49005027C>G	NCBI36
NG_032160.1:g.25501G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.2065+40G>C MANE Select	ENSP00000248846.5:n.2065+40G>C
ENST00000248846.9:c.2065+40G>C	ENSP00000248846.5:n.2065+40G>C
ENST00000439308.6:c.2065+40G>C	ENSP00000397387.2:n.2065+40G>C
ENST00000473946.1:n.374+40G>C
ENST00000489511.5:n.82+40G>C
ENST00000491449.5:n.372+40G>C
ENST00000498611.5:n.2598+40G>C
NM_020461.3:c.2065+40G>C	NP_065194.2:n.2065+40G>C
XR_938347.1:n.2630+40G>C
XR_938348.1:n.2630+40G>C
XR_001755343.2:n.2634+40G>C
XR_001755344.2:n.2634+40G>C
XR_002958720.1:n.2634+40G>C
XR_938347.2:n.2634+40G>C
NM_020461.4:c.2065+40G>C MANE Select	NP_065194.3:n.2065+40G>C