Canonical Allele Identifier: CA412103455

Gene: TUBGCP6

Linked Data

• dbSNP Id: rs1186602882
• gnomAD v4: 22-50224520-C-A
• MyVariant Identifiers: chr22:g.50662949C>A (hg19) ; chr22:g.50224520C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50224520C>A , CM000684.2:g.50224520C>A	GRCh38
NC_000022.10:g.50662949C>A , CM000684.1:g.50662949C>A	GRCh37
NC_000022.9:g.49005076C>A	NCBI36
NG_032160.1:g.25452G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248846.10:c.2056G>T MANE Select	ENSP00000248846.5:p.Ala686Ser
ENST00000248846.9:c.2056G>T	ENSP00000248846.5:p.Ala686Ser
ENST00000439308.6:c.2056G>T	ENSP00000397387.2:p.Ala686Ser
ENST00000473946.1:n.365G>T
ENST00000489511.5:n.73G>T
ENST00000491449.5:n.363G>T
ENST00000498611.5:n.2589G>T
NM_020461.3:c.2056G>T	NP_065194.2:p.Ala686Ser
XR_938347.1:n.2621G>T
XR_938348.1:n.2621G>T
XR_001755343.2:n.2625G>T
XR_001755344.2:n.2625G>T
XR_002958720.1:n.2625G>T
XR_938347.2:n.2625G>T
NM_020461.4:c.2056G>T MANE Select	NP_065194.3:p.Ala686Ser