Canonical Allele Identifier: CA10307946
Gene: TUBGCP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1470467
ClinVar RCV Id: RCV001973275
dbSNP Id: rs533087823
ExAC: 22:50659342 G / A
gnomAD v2: 22-50659342-G-A
gnomAD v3: 22-50220913-G-A
gnomAD v4: 22-50220913-G-A
MyVariant Identifiers: chr22:g.50659342G>A (hg19) chr22:g.50220913G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50220913G>A , CM000684.2:g.50220913G>A GRCh38
NC_000022.10:g.50659342G>A , CM000684.1:g.50659342G>A GRCh37
NC_000022.9:g.49001469G>A NCBI36
NG_032160.1:g.29059C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.3446C>T MANE Select ENSP00000248846.5:p.Ser1149Leu
ENST00000248846.9:c.3446C>T ENSP00000248846.5:p.Ser1149Leu
ENST00000439308.6:c.3446C>T ENSP00000397387.2:p.Ser1149Leu
ENST00000491449.5:n.1753C>T
ENST00000498611.5:n.3617+362C>T
NM_020461.3:c.3446C>T NP_065194.2:p.Ser1149Leu
XR_938347.1:n.4011C>T
XR_938348.1:n.3050-898C>T
XR_001755343.2:n.4015C>T
XR_001755344.2:n.4015C>T
XR_002958720.1:n.3054-898C>T
XR_938347.2:n.4015C>T
NM_020461.4:c.3446C>T MANE Select NP_065194.3:p.Ser1149Leu
Search 100 bp 5'
Search 100 bp 3'