Canonical Allele Identifier: CA353075823

Gene: GLYCTK

Linked Data

• dbSNP Id: rs1409300091
• gnomAD v4: 3-52292884-G-C
• MyVariant Identifiers: chr3:g.52326900G>C (hg19) ; chr3:g.52292884G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52292884G>C , CM000665.2:g.52292884G>C	GRCh38
NC_000003.11:g.52326900G>C , CM000665.1:g.52326900G>C	GRCh37
NC_000003.10:g.52301940G>C	NCBI36
NG_023246.1:g.10065G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1330G>C MANE Select	ENSP00000389175.2:p.Val444Leu
ENST00000305690.12:c.*449G>C	ENSP00000301965.9:n.*449G>C
ENST00000436784.6:c.1330G>C	ENSP00000389175.2:p.Val444Leu
ENST00000461183.5:c.764-162G>C	ENSP00000417264.1:n.764-162G>C
ENST00000471180.5:c.635-162G>C	ENSP00000417526.1:n.635-162G>C
ENST00000473032.5:c.530-162G>C	ENSP00000418951.1:n.530-162G>C
ENST00000477382.1:c.*449G>C	ENSP00000419008.1:n.*449G>C
ENST00000486393.5:c.*693G>C	ENSP00000419868.1:n.*693G>C
ENST00000489173.1:n.1624G>C
NM_001144951.1:c.*449G>C	NP_001138423.1:n.*449G>C
NM_145262.3:c.1330G>C	NP_660305.2:p.Val444Leu
NR_026699.1:n.1428G>C
NR_026700.1:n.696-162G>C
NR_026701.1:n.1426G>C
NR_026702.1:n.626-162G>C
XM_005264878.2:c.*449G>C	XP_005264935.1:n.*449G>C
XR_245095.2:n.2743-162G>C
XM_017005730.1:c.949G>C	XP_016861219.1:p.Val317Leu
XM_024453351.1:c.1330G>C	XP_024309119.1:p.Val444Leu
XM_024453352.1:c.*449G>C	XP_024309120.1:n.*449G>C
XR_001740022.2:n.3232G>C
XR_001740023.2:n.2918-162G>C
XR_245095.4:n.2744-162G>C
NM_145262.4:c.1330G>C MANE Select	NP_660305.2:p.Val444Leu
NR_026699.2:n.1420G>C
NR_026700.2:n.688-162G>C
NR_026701.2:n.1418G>C
NR_026702.2:n.618-162G>C
NM_001144951.2:c.*449G>C	NP_001138423.1:n.*449G>C