Canonical Allele Identifier: CA412103381

Gene: TUBGCP6

Linked Data

• MyVariant Identifiers: chr22:g.50662942C>T (hg19) ; chr22:g.50224513C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50224513C>T , CM000684.2:g.50224513C>T	GRCh38
NC_000022.10:g.50662942C>T , CM000684.1:g.50662942C>T	GRCh37
NC_000022.9:g.49005069C>T	NCBI36
NG_032160.1:g.25459G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248846.10:c.2063G>A MANE Select	ENSP00000248846.5:p.Ser688Asn
ENST00000248846.9:c.2063G>A	ENSP00000248846.5:p.Ser688Asn
ENST00000439308.6:c.2063G>A	ENSP00000397387.2:p.Ser688Asn
ENST00000473946.1:n.372G>A
ENST00000489511.5:n.80G>A
ENST00000491449.5:n.370G>A
ENST00000498611.5:n.2596G>A
NM_020461.3:c.2063G>A	NP_065194.2:p.Ser688Asn
XR_938347.1:n.2628G>A
XR_938348.1:n.2628G>A
XR_001755343.2:n.2632G>A
XR_001755344.2:n.2632G>A
XR_002958720.1:n.2632G>A
XR_938347.2:n.2632G>A
NM_020461.4:c.2063G>A MANE Select	NP_065194.3:p.Ser688Asn