Canonical Allele Identifier: CA412182523

Gene: TUBGCP6

Linked Data

• gnomAD v3: 22-50220929-C-A
• gnomAD v4: 22-50220929-C-A
• MyVariant Identifiers: chr22:g.50659358C>A (hg19) ; chr22:g.50220929C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220929C>A , CM000684.2:g.50220929C>A	GRCh38
NC_000022.10:g.50659358C>A , CM000684.1:g.50659358C>A	GRCh37
NC_000022.9:g.49001485C>A	NCBI36
NG_032160.1:g.29043G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3430G>T MANE Select	ENSP00000248846.5:p.Val1144Phe
ENST00000248846.9:c.3430G>T	ENSP00000248846.5:p.Val1144Phe
ENST00000439308.6:c.3430G>T	ENSP00000397387.2:p.Val1144Phe
ENST00000491449.5:n.1737G>T
ENST00000498611.5:n.3617+346G>T
NM_020461.3:c.3430G>T	NP_065194.2:p.Val1144Phe
XR_938347.1:n.3995G>T
XR_938348.1:n.3050-914G>T
XR_001755343.2:n.3999G>T
XR_001755344.2:n.3999G>T
XR_002958720.1:n.3054-914G>T
XR_938347.2:n.3999G>T
NM_020461.4:c.3430G>T MANE Select	NP_065194.3:p.Val1144Phe