Canonical Allele Identifier: CA353074767

Gene: GLYCTK

Linked Data

• gnomAD v4: 3-52292596-T-C
• MyVariant Identifiers: chr3:g.52326612T>C (hg19) ; chr3:g.52292596T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52292596T>C , CM000665.2:g.52292596T>C	GRCh38
NC_000003.11:g.52326612T>C , CM000665.1:g.52326612T>C	GRCh37
NC_000003.10:g.52301652T>C	NCBI36
NG_023246.1:g.9777T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1042T>C MANE Select	ENSP00000389175.2:p.Tyr348His
ENST00000305690.12:c.*161T>C	ENSP00000301965.9:n.*161T>C
ENST00000436784.6:c.1042T>C	ENSP00000389175.2:p.Tyr348His
ENST00000461183.5:c.763+27T>C	ENSP00000417264.1:n.763+27T>C
ENST00000471180.5:c.634+27T>C	ENSP00000417526.1:n.634+27T>C
ENST00000473032.5:c.530-450T>C	ENSP00000418951.1:n.530-450T>C
ENST00000477382.1:c.*161T>C	ENSP00000419008.1:n.*161T>C
ENST00000486393.5:c.*405T>C	ENSP00000419868.1:n.*405T>C
ENST00000489173.1:n.1336T>C
NM_001144951.1:c.*161T>C	NP_001138423.1:n.*161T>C
NM_145262.3:c.1042T>C	NP_660305.2:p.Tyr348His
NR_026699.1:n.1140T>C
NR_026700.1:n.695+27T>C
NR_026701.1:n.1138T>C
NR_026702.1:n.626-450T>C
XM_005264878.2:c.*161T>C	XP_005264935.1:n.*161T>C
XR_245095.2:n.2742+27T>C
XM_017005730.1:c.661T>C	XP_016861219.1:p.Tyr221His
XM_024453351.1:c.1042T>C	XP_024309119.1:p.Tyr348His
XM_024453352.1:c.*161T>C	XP_024309120.1:n.*161T>C
XR_001740022.2:n.2944T>C
XR_001740023.2:n.2917+27T>C
XR_245095.4:n.2743+27T>C
NM_145262.4:c.1042T>C MANE Select	NP_660305.2:p.Tyr348His
NR_026699.2:n.1132T>C
NR_026700.2:n.687+27T>C
NR_026701.2:n.1130T>C
NR_026702.2:n.618-450T>C
NM_001144951.2:c.*161T>C	NP_001138423.1:n.*161T>C