Canonical Allele Identifier: CA10308057
Gene: TUBGCP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 861536
ClinVar RCV Id: RCV001068087 RCV002471027
dbSNP Id: rs751897821
ExAC: 22:50659699 G / A
gnomAD v2: 22-50659699-G-A
gnomAD v3: 22-50221270-G-A
gnomAD v4: 22-50221270-G-A
MyVariant Identifiers: chr22:g.50659699G>A (hg19) chr22:g.50221270G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50221270G>A , CM000684.2:g.50221270G>A GRCh38
NC_000022.10:g.50659699G>A , CM000684.1:g.50659699G>A GRCh37
NC_000022.9:g.49001826G>A NCBI36
NG_032160.1:g.28702C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.3089C>T MANE Select ENSP00000248846.5:p.Ser1030Leu
ENST00000248846.9:c.3089C>T ENSP00000248846.5:p.Ser1030Leu
ENST00000439308.6:c.3089C>T ENSP00000397387.2:p.Ser1030Leu
ENST00000491449.5:n.1396C>T
ENST00000498611.5:n.3617+5C>T
NM_020461.3:c.3089C>T NP_065194.2:p.Ser1030Leu
XR_938347.1:n.3654C>T
XR_938348.1:n.3049+758C>T
XR_001755343.2:n.3658C>T
XR_001755344.2:n.3658C>T
XR_002958720.1:n.3053+758C>T
XR_938347.2:n.3658C>T
NM_020461.4:c.3089C>T MANE Select NP_065194.3:p.Ser1030Leu
Search 100 bp 5'
Search 100 bp 3'