Canonical Allele Identifier: CA2432355

Gene: GLYCTK

Linked Data

• ClinVar Variation Id: 733992
• ClinVar RCV Id: RCV000909362
• dbSNP Id: rs61740226
• ExAC: 3:52327136 T / C
• gnomAD v2: 3-52327136-T-C
• gnomAD v3: 3-52293120-T-C
• gnomAD v4: 3-52293120-T-C
• MyVariant Identifiers: chr3:g.52327136T>C (hg19) ; chr3:g.52293120T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52293120T>C , CM000665.2:g.52293120T>C	GRCh38
NC_000003.11:g.52327136T>C , CM000665.1:g.52327136T>C	GRCh37
NC_000003.10:g.52302176T>C	NCBI36
NG_023246.1:g.10301T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1566T>C MANE Select	ENSP00000389175.2:p.Pro522=
ENST00000436784.6:c.1566T>C	ENSP00000389175.2:p.Pro522=
ENST00000461183.5:c.838T>C	ENSP00000417264.1:p.Ser280Pro
ENST00000471180.5:c.709T>C	ENSP00000417526.1:p.Ser237Pro
ENST00000473032.5:c.604T>C	ENSP00000418951.1:p.Ser202Pro
ENST00000486393.5:c.*929T>C	ENSP00000419868.1:n.*929T>C
ENST00000489173.1:n.1860T>C
NM_145262.3:c.1566T>C	NP_660305.2:p.Pro522=
NR_026699.1:n.1664T>C
NR_026700.1:n.770T>C
NR_026701.1:n.1662T>C
NR_026702.1:n.700T>C
XM_005264878.2:c.*685T>C	XP_005264935.1:n.*685T>C
XR_245095.2:n.2817T>C
XM_017005730.1:c.1185T>C	XP_016861219.1:p.Pro395=
XM_024453351.1:c.1566T>C	XP_024309119.1:p.Pro522=
XM_024453352.1:c.*685T>C	XP_024309120.1:n.*685T>C
XR_001740022.2:n.3468T>C
XR_001740023.2:n.2992T>C
XR_245095.4:n.2818T>C
NM_145262.4:c.1566T>C MANE Select	NP_660305.2:p.Pro522=
NR_026699.2:n.1656T>C
NR_026700.2:n.762T>C
NR_026701.2:n.1654T>C
NR_026702.2:n.692T>C
NM_001144951.2:c.*685T>C	NP_001138423.1:n.*685T>C