Canonical Allele Identifier: CA353075370

Gene: GLYCTK

Linked Data

• ClinVar Variation Id: 2339006
• ClinVar RCV Id: RCV004182826
• dbSNP Id: rs1700521328
• gnomAD v4: 3-52292717-T-C
• MyVariant Identifiers: chr3:g.52326733T>C (hg19) ; chr3:g.52292717T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52292717T>C , CM000665.2:g.52292717T>C	GRCh38
NC_000003.11:g.52326733T>C , CM000665.1:g.52326733T>C	GRCh37
NC_000003.10:g.52301773T>C	NCBI36
NG_023246.1:g.9898T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1163T>C MANE Select	ENSP00000389175.2:p.Leu388Pro
ENST00000305690.12:c.*282T>C	ENSP00000301965.9:n.*282T>C
ENST00000436784.6:c.1163T>C	ENSP00000389175.2:p.Leu388Pro
ENST00000461183.5:c.763+148T>C	ENSP00000417264.1:n.763+148T>C
ENST00000471180.5:c.634+148T>C	ENSP00000417526.1:n.634+148T>C
ENST00000473032.5:c.530-329T>C	ENSP00000418951.1:n.530-329T>C
ENST00000477382.1:c.*282T>C	ENSP00000419008.1:n.*282T>C
ENST00000486393.5:c.*526T>C	ENSP00000419868.1:n.*526T>C
ENST00000489173.1:n.1457T>C
NM_001144951.1:c.*282T>C	NP_001138423.1:n.*282T>C
NM_145262.3:c.1163T>C	NP_660305.2:p.Leu388Pro
NR_026699.1:n.1261T>C
NR_026700.1:n.695+148T>C
NR_026701.1:n.1259T>C
NR_026702.1:n.626-329T>C
XM_005264878.2:c.*282T>C	XP_005264935.1:n.*282T>C
XR_245095.2:n.2742+148T>C
XM_017005730.1:c.782T>C	XP_016861219.1:p.Leu261Pro
XM_024453351.1:c.1163T>C	XP_024309119.1:p.Leu388Pro
XM_024453352.1:c.*282T>C	XP_024309120.1:n.*282T>C
XR_001740022.2:n.3065T>C
XR_001740023.2:n.2917+148T>C
XR_245095.4:n.2743+148T>C
NM_145262.4:c.1163T>C MANE Select	NP_660305.2:p.Leu388Pro
NR_026699.2:n.1253T>C
NR_026700.2:n.687+148T>C
NR_026701.2:n.1251T>C
NR_026702.2:n.618-329T>C
NM_001144951.2:c.*282T>C	NP_001138423.1:n.*282T>C