Canonical Allele Identifier: CA754042017
Gene: TUBGCP6 HGNC NCBI

Linked Data

dbSNP Id: rs1232356741
gnomAD v4: 22-50224300-G-A
MyVariant Identifiers: chr22:g.50662729G>A (hg19) chr22:g.50224300G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50224300G>A , CM000684.2:g.50224300G>A GRCh38
NC_000022.10:g.50662729G>A , CM000684.1:g.50662729G>A GRCh37
NC_000022.9:g.49004856G>A NCBI36
NG_032160.1:g.25672C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.2154+32C>T MANE Select ENSP00000248846.5:n.2154+32C>T
ENST00000248846.9:c.2154+32C>T ENSP00000248846.5:n.2154+32C>T
ENST00000439308.6:c.2154+32C>T ENSP00000397387.2:n.2154+32C>T
ENST00000473946.1:n.463+32C>T
ENST00000489511.5:n.171+32C>T
ENST00000491449.5:n.461+32C>T
ENST00000498611.5:n.2687+32C>T
NM_020461.3:c.2154+32C>T NP_065194.2:n.2154+32C>T
XR_938347.1:n.2719+32C>T
XR_938348.1:n.2719+32C>T
XR_001755343.2:n.2723+32C>T
XR_001755344.2:n.2723+32C>T
XR_002958720.1:n.2723+32C>T
XR_938347.2:n.2723+32C>T
NM_020461.4:c.2154+32C>T MANE Select NP_065194.3:n.2154+32C>T
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