Canonical Allele Identifier: CA2665985154
Gene: GLYCTK HGNC NCBI

Linked Data

gnomAD v4: 3-52293240-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52293240G>C , CM000665.2:g.52293240G>C GRCh38
NC_000003.11:g.52327256G>C , CM000665.1:g.52327256G>C GRCh37
NC_000003.10:g.52302296G>C NCBI36
NG_023246.1:g.10421G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000436784.7:c.*114G>C MANE Select ENSP00000389175.2:n.*114G>C
ENST00000436784.6:c.*114G>C ENSP00000389175.2:n.*114G>C
ENST00000471180.5:c.*58+48G>C ENSP00000417526.1:n.*58+48G>C
ENST00000473032.5:c.*58+48G>C ENSP00000418951.1:n.*58+48G>C
ENST00000486393.5:c.*1049G>C ENSP00000419868.1:n.*1049G>C
ENST00000489173.1:n.1915-67G>C
NM_145262.3:c.*114G>C NP_660305.2:n.*114G>C
NR_026699.1:n.1784G>C
NR_026700.1:n.842+48G>C
NR_026701.1:n.1734+48G>C
NR_026702.1:n.772+48G>C
XM_005264878.2:c.*805G>C XP_005264935.1:n.*805G>C
XR_245095.2:n.2889+48G>C
XM_017005730.1:c.*114G>C XP_016861219.1:n.*114G>C
XM_024453351.1:c.*114G>C XP_024309119.1:n.*114G>C
XM_024453352.1:c.*805G>C XP_024309120.1:n.*805G>C
XR_001740022.2:n.3540+48G>C
XR_001740023.2:n.3064+48G>C
XR_245095.4:n.2890+48G>C
NM_145262.4:c.*114G>C MANE Select NP_660305.2:n.*114G>C
NR_026699.2:n.1776G>C
NR_026700.2:n.834+48G>C
NR_026701.2:n.1726+48G>C
NR_026702.2:n.764+48G>C
NM_001144951.2:c.*805G>C NP_001138423.1:n.*805G>C