Canonical Allele Identifier: CA325512044

Gene: TUBGCP6

Linked Data

• dbSNP Id: rs568995761
• gnomAD v4: 22-50220733-C-A
• MyVariant Identifiers: chr22:g.50659162C>A (hg19) ; chr22:g.50220733C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220733C>A , CM000684.2:g.50220733C>A	GRCh38
NC_000022.10:g.50659162C>A , CM000684.1:g.50659162C>A	GRCh37
NC_000022.9:g.49001289C>A	NCBI36
NG_032160.1:g.29239G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3626G>T MANE Select	ENSP00000248846.5:p.Arg1209Leu
ENST00000248846.9:c.3626G>T	ENSP00000248846.5:p.Arg1209Leu
ENST00000439308.6:c.3626G>T	ENSP00000397387.2:p.Arg1209Leu
ENST00000491449.5:n.1933G>T
ENST00000498611.5:n.3617+542G>T
NM_020461.3:c.3626G>T	NP_065194.2:p.Arg1209Leu
XR_938347.1:n.4191G>T
XR_938348.1:n.3050-718G>T
XR_001755343.2:n.4195G>T
XR_001755344.2:n.4195G>T
XR_002958720.1:n.3054-718G>T
XR_938347.2:n.4195G>T
NM_020461.4:c.3626G>T MANE Select	NP_065194.3:p.Arg1209Leu