Canonical Allele Identifier: CA412177691

Gene: TUBGCP6

Linked Data

• gnomAD v4: 22-50220424-C-T
• MyVariant Identifiers: chr22:g.50658853C>T (hg19) ; chr22:g.50220424C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220424C>T , CM000684.2:g.50220424C>T	GRCh38
NC_000022.10:g.50658853C>T , CM000684.1:g.50658853C>T	GRCh37
NC_000022.9:g.49000980C>T	NCBI36
NG_032160.1:g.29548G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3935G>A MANE Select	ENSP00000248846.5:p.Ser1312Asn
ENST00000248846.9:c.3935G>A	ENSP00000248846.5:p.Ser1312Asn
ENST00000439308.6:c.3935G>A	ENSP00000397387.2:p.Ser1312Asn
ENST00000491449.5:n.2242G>A
ENST00000498611.5:n.3618-409G>A
NM_020461.3:c.3935G>A	NP_065194.2:p.Ser1312Asn
XR_938347.1:n.4500G>A
XR_938348.1:n.3050-409G>A
XR_001755343.2:n.4504G>A
XR_001755344.2:n.4504G>A
XR_002958720.1:n.3054-409G>A
XR_938347.2:n.4504G>A
NM_020461.4:c.3935G>A MANE Select	NP_065194.3:p.Ser1312Asn