Canonical Allele Identifier: CA7524056
Community Standard Title: NM_014444.5(TUBGCP4):c.1280-24T>C
Gene: TUBGCP4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43398017T>C , CM000677.2:g.43398017T>C GRCh38
NC_000015.9:g.43690215T>C , CM000677.1:g.43690215T>C GRCh37
NC_000015.8:g.41477507T>C NCBI36
NG_042168.1:g.31959T>C

Transcript Alleles

HGVS Amino-acid Change
NM_014444.5:c.1280-24T>C MANE Select NP_055259.2:n.1280-24T>C
ENST00000564079.6:c.1280-24T>C MANE Select ENSP00000456648.2:n.1280-24T>C
NM_001286414.1:c.1280-21T>C NP_001273343.1:n.1280-21T>C
NM_001286414.2:c.1280-21T>C NP_001273343.1:n.1280-21T>C
NM_001286414.3:c.1280-21T>C NP_001273343.1:n.1280-21T>C
NM_014444.3:c.1280-24T>C NP_055259.2:n.1280-24T>C
NM_014444.4:c.1280-24T>C NP_055259.2:n.1280-24T>C
ENST00000260383.11:c.1280-21T>C ENSP00000260383.7:n.1280-21T>C
ENST00000561691.5:c.1036-21T>C
ENST00000562053.1:n.113-24T>C
ENST00000563963.1:n.1717-24T>C
ENST00000564079.5:c.1280-24T>C ENSP00000456648.1:n.1280-24T>C
XM_011521453.1:c.1229-21T>C XP_011519755.1:n.1229-21T>C
XM_011521454.1:c.1280-21T>C XP_011519756.1:n.1280-21T>C
XM_011521454.3:c.1280-21T>C XP_011519756.1:n.1280-21T>C
XM_011521455.1:c.872-21T>C XP_011519757.1:n.872-21T>C
XM_011521455.2:c.872-21T>C XP_011519757.1:n.872-21T>C
XM_017022078.2:c.1280-24T>C XP_016877567.1:n.1280-24T>C
XR_001751226.2:n.1559-21T>C
XR_243092.2:n.1576-21T>C
XR_243092.4:n.1559-21T>C