Canonical Allele Identifier: CA325511858

Gene: TUBGCP6

Linked Data

• dbSNP Id: rs980255960
• gnomAD v2: 22-50658941-A-G
• gnomAD v4: 22-50220512-A-G
• MyVariant Identifiers: chr22:g.50658941A>G (hg19) ; chr22:g.50220512A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220512A>G , CM000684.2:g.50220512A>G	GRCh38
NC_000022.10:g.50658941A>G , CM000684.1:g.50658941A>G	GRCh37
NC_000022.9:g.49001068A>G	NCBI36
NG_032160.1:g.29460T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3847T>C MANE Select	ENSP00000248846.5:p.Ser1283Pro
ENST00000248846.9:c.3847T>C	ENSP00000248846.5:p.Ser1283Pro
ENST00000439308.6:c.3847T>C	ENSP00000397387.2:p.Ser1283Pro
ENST00000491449.5:n.2154T>C
ENST00000498611.5:n.3618-497T>C
NM_020461.3:c.3847T>C	NP_065194.2:p.Ser1283Pro
XR_938347.1:n.4412T>C
XR_938348.1:n.3050-497T>C
XR_001755343.2:n.4416T>C
XR_001755344.2:n.4416T>C
XR_002958720.1:n.3054-497T>C
XR_938347.2:n.4416T>C
NM_020461.4:c.3847T>C MANE Select	NP_065194.3:p.Ser1283Pro