Canonical Allele Identifier: CA2432241

Gene: GLYCTK

Linked Data

• dbSNP Id: rs747729806
• ExAC: 3:52326611 C / A
• gnomAD v2: 3-52326611-C-A
• gnomAD v4: 3-52292595-C-A
• COSMIC: COSM1208370
• MyVariant Identifiers: chr3:g.52326611C>A (hg19) ; chr3:g.52292595C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52292595C>A , CM000665.2:g.52292595C>A	GRCh38
NC_000003.11:g.52326611C>A , CM000665.1:g.52326611C>A	GRCh37
NC_000003.10:g.52301651C>A	NCBI36
NG_023246.1:g.9776C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1041C>A MANE Select	ENSP00000389175.2:p.Phe347Leu
ENST00000305690.12:c.*160C>A	ENSP00000301965.9:n.*160C>A
ENST00000436784.6:c.1041C>A	ENSP00000389175.2:p.Phe347Leu
ENST00000461183.5:c.763+26C>A	ENSP00000417264.1:n.763+26C>A
ENST00000471180.5:c.634+26C>A	ENSP00000417526.1:n.634+26C>A
ENST00000473032.5:c.530-451C>A	ENSP00000418951.1:n.530-451C>A
ENST00000477382.1:c.*160C>A	ENSP00000419008.1:n.*160C>A
ENST00000486393.5:c.*404C>A	ENSP00000419868.1:n.*404C>A
ENST00000489173.1:n.1335C>A
NM_001144951.1:c.*160C>A	NP_001138423.1:n.*160C>A
NM_145262.3:c.1041C>A	NP_660305.2:p.Phe347Leu
NR_026699.1:n.1139C>A
NR_026700.1:n.695+26C>A
NR_026701.1:n.1137C>A
NR_026702.1:n.626-451C>A
XM_005264878.2:c.*160C>A	XP_005264935.1:n.*160C>A
XR_245095.2:n.2742+26C>A
XM_017005730.1:c.660C>A	XP_016861219.1:p.Phe220Leu
XM_024453351.1:c.1041C>A	XP_024309119.1:p.Phe347Leu
XM_024453352.1:c.*160C>A	XP_024309120.1:n.*160C>A
XR_001740022.2:n.2943C>A
XR_001740023.2:n.2917+26C>A
XR_245095.4:n.2743+26C>A
NM_145262.4:c.1041C>A MANE Select	NP_660305.2:p.Phe347Leu
NR_026699.2:n.1131C>A
NR_026700.2:n.687+26C>A
NR_026701.2:n.1129C>A
NR_026702.2:n.618-451C>A
NM_001144951.2:c.*160C>A	NP_001138423.1:n.*160C>A