Canonical Allele Identifier: CA10307897
Gene: TUBGCP6 HGNC NCBI

Linked Data

dbSNP Id: rs751077653
ExAC: 22:50659197 G / C
gnomAD v2: 22-50659197-G-C
gnomAD v3: 22-50220768-G-C
gnomAD v4: 22-50220768-G-C
MyVariant Identifiers: chr22:g.50659197G>C (hg19) chr22:g.50220768G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50220768G>C , CM000684.2:g.50220768G>C GRCh38
NC_000022.10:g.50659197G>C , CM000684.1:g.50659197G>C GRCh37
NC_000022.9:g.49001324G>C NCBI36
NG_032160.1:g.29204C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.3591C>G MANE Select ENSP00000248846.5:p.Ser1197Arg
ENST00000248846.9:c.3591C>G ENSP00000248846.5:p.Ser1197Arg
ENST00000439308.6:c.3591C>G ENSP00000397387.2:p.Ser1197Arg
ENST00000491449.5:n.1898C>G
ENST00000498611.5:n.3617+507C>G
NM_020461.3:c.3591C>G NP_065194.2:p.Ser1197Arg
XR_938347.1:n.4156C>G
XR_938348.1:n.3050-753C>G
XR_001755343.2:n.4160C>G
XR_001755344.2:n.4160C>G
XR_002958720.1:n.3054-753C>G
XR_938347.2:n.4160C>G
NM_020461.4:c.3591C>G MANE Select NP_065194.3:p.Ser1197Arg
Search 100 bp 5'
Search 100 bp 3'