Canonical Allele Identifier: CA515376729

Gene: TUBGCP6

Linked Data

• gnomAD v4: 22-50221319-G-A
• MyVariant Identifiers: chr22:g.50659748G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50221319G>A , CM000684.2:g.50221319G>A	GRCh38
NC_000022.10:g.50659748G>A , CM000684.1:g.50659748G>A	GRCh37
NC_000022.9:g.49001875G>A	NCBI36
NG_032160.1:g.28653C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3040C>T MANE Select	ENSP00000248846.5:p.Leu1014=
ENST00000248846.9:c.3040C>T	ENSP00000248846.5:p.Leu1014=
ENST00000439308.6:c.3040C>T	ENSP00000397387.2:p.Leu1014=
ENST00000491449.5:n.1347C>T
ENST00000498611.5:n.3573C>T
NM_020461.3:c.3040C>T	NP_065194.2:p.Leu1014=
XR_938347.1:n.3605C>T
XR_938348.1:n.3049+709C>T
XR_001755343.2:n.3609C>T
XR_001755344.2:n.3609C>T
XR_002958720.1:n.3053+709C>T
XR_938347.2:n.3609C>T
NM_020461.4:c.3040C>T MANE Select	NP_065194.3:p.Leu1014=