Canonical Allele Identifier: CA412184253
Gene: TUBGCP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1319703
ClinVar RCV Id: RCV003237691
dbSNP Id: rs1450554636
gnomAD v3: 22-50221138-T-C
gnomAD v4: 22-50221138-T-C
MyVariant Identifiers: chr22:g.50659567T>C (hg19) chr22:g.50221138T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50221138T>C , CM000684.2:g.50221138T>C GRCh38
NC_000022.10:g.50659567T>C , CM000684.1:g.50659567T>C GRCh37
NC_000022.9:g.49001694T>C NCBI36
NG_032160.1:g.28834A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.3221A>G MANE Select ENSP00000248846.5:p.Gln1074Arg
ENST00000248846.9:c.3221A>G ENSP00000248846.5:p.Gln1074Arg
ENST00000439308.6:c.3221A>G ENSP00000397387.2:p.Gln1074Arg
ENST00000491449.5:n.1528A>G
ENST00000498611.5:n.3617+137A>G
NM_020461.3:c.3221A>G NP_065194.2:p.Gln1074Arg
XR_938347.1:n.3786A>G
XR_938348.1:n.3049+890A>G
XR_001755343.2:n.3790A>G
XR_001755344.2:n.3790A>G
XR_002958720.1:n.3053+890A>G
XR_938347.2:n.3790A>G
NM_020461.4:c.3221A>G MANE Select NP_065194.3:p.Gln1074Arg
Search 100 bp 5'
Search 100 bp 3'