Canonical Allele Identifier: CA353075223

Gene: GLYCTK

Linked Data

• dbSNP Id: rs1250069746
• gnomAD v2: 3-52326693-C-T
• gnomAD v4: 3-52292677-C-T
• COSMIC: COSM5598339
• MyVariant Identifiers: chr3:g.52326693C>T (hg19) ; chr3:g.52292677C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52292677C>T , CM000665.2:g.52292677C>T	GRCh38
NC_000003.11:g.52326693C>T , CM000665.1:g.52326693C>T	GRCh37
NC_000003.10:g.52301733C>T	NCBI36
NG_023246.1:g.9858C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1123C>T MANE Select	ENSP00000389175.2:p.His375Tyr
ENST00000305690.12:c.*242C>T	ENSP00000301965.9:n.*242C>T
ENST00000436784.6:c.1123C>T	ENSP00000389175.2:p.His375Tyr
ENST00000461183.5:c.763+108C>T	ENSP00000417264.1:n.763+108C>T
ENST00000471180.5:c.634+108C>T	ENSP00000417526.1:n.634+108C>T
ENST00000473032.5:c.530-369C>T	ENSP00000418951.1:n.530-369C>T
ENST00000477382.1:c.*242C>T	ENSP00000419008.1:n.*242C>T
ENST00000486393.5:c.*486C>T	ENSP00000419868.1:n.*486C>T
ENST00000489173.1:n.1417C>T
NM_001144951.1:c.*242C>T	NP_001138423.1:n.*242C>T
NM_145262.3:c.1123C>T	NP_660305.2:p.His375Tyr
NR_026699.1:n.1221C>T
NR_026700.1:n.695+108C>T
NR_026701.1:n.1219C>T
NR_026702.1:n.626-369C>T
XM_005264878.2:c.*242C>T	XP_005264935.1:n.*242C>T
XR_245095.2:n.2742+108C>T
XM_017005730.1:c.742C>T	XP_016861219.1:p.His248Tyr
XM_024453351.1:c.1123C>T	XP_024309119.1:p.His375Tyr
XM_024453352.1:c.*242C>T	XP_024309120.1:n.*242C>T
XR_001740022.2:n.3025C>T
XR_001740023.2:n.2917+108C>T
XR_245095.4:n.2743+108C>T
NM_145262.4:c.1123C>T MANE Select	NP_660305.2:p.His375Tyr
NR_026699.2:n.1213C>T
NR_026700.2:n.687+108C>T
NR_026701.2:n.1211C>T
NR_026702.2:n.618-369C>T
NM_001144951.2:c.*242C>T	NP_001138423.1:n.*242C>T