Canonical Allele Identifier: CA353075784
Gene: GLYCTK HGNC NCBI

Linked Data

dbSNP Id: rs1213269711
gnomAD v3: 3-52292873-G-T
gnomAD v4: 3-52292873-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52292873G>T , CM000665.2:g.52292873G>T GRCh38
NC_000003.11:g.52326889G>T , CM000665.1:g.52326889G>T GRCh37
NC_000003.10:g.52301929G>T NCBI36
NG_023246.1:g.10054G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000436784.7:c.1319G>T MANE Select ENSP00000389175.2:p.Gly440Val
ENST00000305690.12:c.*438G>T ENSP00000301965.9:n.*438G>T
ENST00000436784.6:c.1319G>T ENSP00000389175.2:p.Gly440Val
ENST00000461183.5:c.764-173G>T ENSP00000417264.1:n.764-173G>T
ENST00000471180.5:c.635-173G>T ENSP00000417526.1:n.635-173G>T
ENST00000473032.5:c.530-173G>T ENSP00000418951.1:n.530-173G>T
ENST00000477382.1:c.*438G>T ENSP00000419008.1:n.*438G>T
ENST00000486393.5:c.*682G>T ENSP00000419868.1:n.*682G>T
ENST00000489173.1:n.1613G>T
NM_001144951.1:c.*438G>T NP_001138423.1:n.*438G>T
NM_145262.3:c.1319G>T NP_660305.2:p.Gly440Val
NR_026699.1:n.1417G>T
NR_026700.1:n.696-173G>T
NR_026701.1:n.1415G>T
NR_026702.1:n.626-173G>T
XM_005264878.2:c.*438G>T XP_005264935.1:n.*438G>T
XR_245095.2:n.2743-173G>T
XM_017005730.1:c.938G>T XP_016861219.1:p.Gly313Val
XM_024453351.1:c.1319G>T XP_024309119.1:p.Gly440Val
XM_024453352.1:c.*438G>T XP_024309120.1:n.*438G>T
XR_001740022.2:n.3221G>T
XR_001740023.2:n.2918-173G>T
XR_245095.4:n.2744-173G>T
NM_145262.4:c.1319G>T MANE Select NP_660305.2:p.Gly440Val
NR_026699.2:n.1409G>T
NR_026700.2:n.688-173G>T
NR_026701.2:n.1407G>T
NR_026702.2:n.618-173G>T
NM_001144951.2:c.*438G>T NP_001138423.1:n.*438G>T