Canonical Allele Identifier: CA412182797

Gene: TUBGCP6

Linked Data

• dbSNP Id: rs879175668
• gnomAD v3: 22-50220963-A-T
• gnomAD v4: 22-50220963-A-T
• MyVariant Identifiers: chr22:g.50659392A>T (hg19) ; chr22:g.50220963A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220963A>T , CM000684.2:g.50220963A>T	GRCh38
NC_000022.10:g.50659392A>T , CM000684.1:g.50659392A>T	GRCh37
NC_000022.9:g.49001519A>T	NCBI36
NG_032160.1:g.29009T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3396T>A MANE Select	ENSP00000248846.5:p.Asn1132Lys
ENST00000248846.9:c.3396T>A	ENSP00000248846.5:p.Asn1132Lys
ENST00000439308.6:c.3396T>A	ENSP00000397387.2:p.Asn1132Lys
ENST00000491449.5:n.1703T>A
ENST00000498611.5:n.3617+312T>A
NM_020461.3:c.3396T>A	NP_065194.2:p.Asn1132Lys
XR_938347.1:n.3961T>A
XR_938348.1:n.3050-948T>A
XR_001755343.2:n.3965T>A
XR_001755344.2:n.3965T>A
XR_002958720.1:n.3054-948T>A
XR_938347.2:n.3965T>A
NM_020461.4:c.3396T>A MANE Select	NP_065194.3:p.Asn1132Lys