Canonical Allele Identifier: CA412102933
Gene: TUBGCP6 HGNC NCBI

Linked Data

gnomAD v4: 22-50224356-T-G
MyVariant Identifiers: chr22:g.50662785T>G (hg19) chr22:g.50224356T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50224356T>G , CM000684.2:g.50224356T>G GRCh38
NC_000022.10:g.50662785T>G , CM000684.1:g.50662785T>G GRCh37
NC_000022.9:g.49004912T>G NCBI36
NG_032160.1:g.25616A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.2130A>C MANE Select ENSP00000248846.5:p.Lys710Asn
ENST00000248846.9:c.2130A>C ENSP00000248846.5:p.Lys710Asn
ENST00000439308.6:c.2130A>C ENSP00000397387.2:p.Lys710Asn
ENST00000473946.1:n.439A>C
ENST00000489511.5:n.147A>C
ENST00000491449.5:n.437A>C
ENST00000498611.5:n.2663A>C
NM_020461.3:c.2130A>C NP_065194.2:p.Lys710Asn
XR_938347.1:n.2695A>C
XR_938348.1:n.2695A>C
XR_001755343.2:n.2699A>C
XR_001755344.2:n.2699A>C
XR_002958720.1:n.2699A>C
XR_938347.2:n.2699A>C
NM_020461.4:c.2130A>C MANE Select NP_065194.3:p.Lys710Asn
Search 100 bp 5'
Search 100 bp 3'