Canonical Allele Identifier: CA515376893

Gene: TUBGCP6

Linked Data

• MyVariant Identifiers: chr22:g.50662824G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50224395G>A , CM000684.2:g.50224395G>A	GRCh38
NC_000022.10:g.50662824G>A , CM000684.1:g.50662824G>A	GRCh37
NC_000022.9:g.49004951G>A	NCBI36
NG_032160.1:g.25577C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.2091C>T MANE Select	ENSP00000248846.5:p.Ala697=
ENST00000248846.9:c.2091C>T	ENSP00000248846.5:p.Ala697=
ENST00000439308.6:c.2091C>T	ENSP00000397387.2:p.Ala697=
ENST00000473946.1:n.400C>T
ENST00000489511.5:n.108C>T
ENST00000491449.5:n.398C>T
ENST00000498611.5:n.2624C>T
NM_020461.3:c.2091C>T	NP_065194.2:p.Ala697=
XR_938347.1:n.2656C>T
XR_938348.1:n.2656C>T
XR_001755343.2:n.2660C>T
XR_001755344.2:n.2660C>T
XR_002958720.1:n.2660C>T
XR_938347.2:n.2660C>T
NM_020461.4:c.2091C>T MANE Select	NP_065194.3:p.Ala697=