Canonical Allele Identifier: CA2657501829

Gene: TUBGCP6

Linked Data

• gnomAD v4: 22-50224327-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50224327C>T , CM000684.2:g.50224327C>T	GRCh38
NC_000022.10:g.50662756C>T , CM000684.1:g.50662756C>T	GRCh37
NC_000022.9:g.49004883C>T	NCBI36
NG_032160.1:g.25645G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.2154+5G>A MANE Select	ENSP00000248846.5:n.2154+5G>A
ENST00000248846.9:c.2154+5G>A	ENSP00000248846.5:n.2154+5G>A
ENST00000439308.6:c.2154+5G>A	ENSP00000397387.2:n.2154+5G>A
ENST00000473946.1:n.463+5G>A
ENST00000489511.5:n.171+5G>A
ENST00000491449.5:n.461+5G>A
ENST00000498611.5:n.2687+5G>A
NM_020461.3:c.2154+5G>A	NP_065194.2:n.2154+5G>A
XR_938347.1:n.2719+5G>A
XR_938348.1:n.2719+5G>A
XR_001755343.2:n.2723+5G>A
XR_001755344.2:n.2723+5G>A
XR_002958720.1:n.2723+5G>A
XR_938347.2:n.2723+5G>A
NM_020461.4:c.2154+5G>A MANE Select	NP_065194.3:n.2154+5G>A