Canonical Allele Identifier: CA325512560
Gene: TUBGCP6 HGNC NCBI

Linked Data

dbSNP Id: rs1012778605
gnomAD v4: 22-50221304-T-C
MyVariant Identifiers: chr22:g.50659733T>C (hg19) chr22:g.50221304T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50221304T>C , CM000684.2:g.50221304T>C GRCh38
NC_000022.10:g.50659733T>C , CM000684.1:g.50659733T>C GRCh37
NC_000022.9:g.49001860T>C NCBI36
NG_032160.1:g.28668A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.3055A>G MANE Select ENSP00000248846.5:p.Ser1019Gly
ENST00000248846.9:c.3055A>G ENSP00000248846.5:p.Ser1019Gly
ENST00000439308.6:c.3055A>G ENSP00000397387.2:p.Ser1019Gly
ENST00000491449.5:n.1362A>G
ENST00000498611.5:n.3588A>G
NM_020461.3:c.3055A>G NP_065194.2:p.Ser1019Gly
XR_938347.1:n.3620A>G
XR_938348.1:n.3049+724A>G
XR_001755343.2:n.3624A>G
XR_001755344.2:n.3624A>G
XR_002958720.1:n.3053+724A>G
XR_938347.2:n.3624A>G
NM_020461.4:c.3055A>G MANE Select NP_065194.3:p.Ser1019Gly
Search 100 bp 5'
Search 100 bp 3'