Canonical Allele Identifier: CA2432245

Gene: GLYCTK

Linked Data

• dbSNP Id: rs766346099
• ExAC: 3:52326621 C / G
• gnomAD v2: 3-52326621-C-G
• gnomAD v4: 3-52292605-C-G
• COSMIC: COSM3660641
• MyVariant Identifiers: chr3:g.52326621C>G (hg19) ; chr3:g.52292605C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52292605C>G , CM000665.2:g.52292605C>G	GRCh38
NC_000003.11:g.52326621C>G , CM000665.1:g.52326621C>G	GRCh37
NC_000003.10:g.52301661C>G	NCBI36
NG_023246.1:g.9786C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1051C>G MANE Select	ENSP00000389175.2:p.Leu351Val
ENST00000305690.12:c.*170C>G	ENSP00000301965.9:n.*170C>G
ENST00000436784.6:c.1051C>G	ENSP00000389175.2:p.Leu351Val
ENST00000461183.5:c.763+36C>G	ENSP00000417264.1:n.763+36C>G
ENST00000471180.5:c.634+36C>G	ENSP00000417526.1:n.634+36C>G
ENST00000473032.5:c.530-441C>G	ENSP00000418951.1:n.530-441C>G
ENST00000477382.1:c.*170C>G	ENSP00000419008.1:n.*170C>G
ENST00000486393.5:c.*414C>G	ENSP00000419868.1:n.*414C>G
ENST00000489173.1:n.1345C>G
NM_001144951.1:c.*170C>G	NP_001138423.1:n.*170C>G
NM_145262.3:c.1051C>G	NP_660305.2:p.Leu351Val
NR_026699.1:n.1149C>G
NR_026700.1:n.695+36C>G
NR_026701.1:n.1147C>G
NR_026702.1:n.626-441C>G
XM_005264878.2:c.*170C>G	XP_005264935.1:n.*170C>G
XR_245095.2:n.2742+36C>G
XM_017005730.1:c.670C>G	XP_016861219.1:p.Leu224Val
XM_024453351.1:c.1051C>G	XP_024309119.1:p.Leu351Val
XM_024453352.1:c.*170C>G	XP_024309120.1:n.*170C>G
XR_001740022.2:n.2953C>G
XR_001740023.2:n.2917+36C>G
XR_245095.4:n.2743+36C>G
NM_145262.4:c.1051C>G MANE Select	NP_660305.2:p.Leu351Val
NR_026699.2:n.1141C>G
NR_026700.2:n.687+36C>G
NR_026701.2:n.1139C>G
NR_026702.2:n.618-441C>G
NM_001144951.2:c.*170C>G	NP_001138423.1:n.*170C>G