Canonical Allele Identifier: CA353076332

Gene: GLYCTK

Linked Data

• dbSNP Id: rs1348722519
• gnomAD v2: 3-52327021-T-C
• gnomAD v3: 3-52293005-T-C
• gnomAD v4: 3-52293005-T-C
• MyVariant Identifiers: chr3:g.52327021T>C (hg19) ; chr3:g.52293005T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52293005T>C , CM000665.2:g.52293005T>C	GRCh38
NC_000003.11:g.52327021T>C , CM000665.1:g.52327021T>C	GRCh37
NC_000003.10:g.52302061T>C	NCBI36
NG_023246.1:g.10186T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000436784.7:c.1451T>C MANE Select	ENSP00000389175.2:p.Leu484Pro
ENST00000305690.12:c.*570T>C	ENSP00000301965.9:n.*570T>C
ENST00000436784.6:c.1451T>C	ENSP00000389175.2:p.Leu484Pro
ENST00000461183.5:c.764-41T>C	ENSP00000417264.1:n.764-41T>C
ENST00000471180.5:c.635-41T>C	ENSP00000417526.1:n.635-41T>C
ENST00000473032.5:c.530-41T>C	ENSP00000418951.1:n.530-41T>C
ENST00000477382.1:c.*570T>C	ENSP00000419008.1:n.*570T>C
ENST00000486393.5:c.*814T>C	ENSP00000419868.1:n.*814T>C
ENST00000489173.1:n.1745T>C
NM_001144951.1:c.*570T>C	NP_001138423.1:n.*570T>C
NM_145262.3:c.1451T>C	NP_660305.2:p.Leu484Pro
NR_026699.1:n.1549T>C
NR_026700.1:n.696-41T>C
NR_026701.1:n.1547T>C
NR_026702.1:n.626-41T>C
XM_005264878.2:c.*570T>C	XP_005264935.1:n.*570T>C
XR_245095.2:n.2743-41T>C
XM_017005730.1:c.1070T>C	XP_016861219.1:p.Leu357Pro
XM_024453351.1:c.1451T>C	XP_024309119.1:p.Leu484Pro
XM_024453352.1:c.*570T>C	XP_024309120.1:n.*570T>C
XR_001740022.2:n.3353T>C
XR_001740023.2:n.2918-41T>C
XR_245095.4:n.2744-41T>C
NM_145262.4:c.1451T>C MANE Select	NP_660305.2:p.Leu484Pro
NR_026699.2:n.1541T>C
NR_026700.2:n.688-41T>C
NR_026701.2:n.1539T>C
NR_026702.2:n.618-41T>C
NM_001144951.2:c.*570T>C	NP_001138423.1:n.*570T>C