Canonical Allele Identifier: CA353074924

Gene: GLYCTK

Linked Data

• dbSNP Id: rs1297828614
• gnomAD v2: 3-52326639-A-C
• gnomAD v4: 3-52292623-A-C
• MyVariant Identifiers: chr3:g.52326639A>C (hg19) ; chr3:g.52292623A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52292623A>C , CM000665.2:g.52292623A>C	GRCh38
NC_000003.11:g.52326639A>C , CM000665.1:g.52326639A>C	GRCh37
NC_000003.10:g.52301679A>C	NCBI36
NG_023246.1:g.9804A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1069A>C MANE Select	ENSP00000389175.2:p.Thr357Pro
ENST00000305690.12:c.*188A>C	ENSP00000301965.9:n.*188A>C
ENST00000436784.6:c.1069A>C	ENSP00000389175.2:p.Thr357Pro
ENST00000461183.5:c.763+54A>C	ENSP00000417264.1:n.763+54A>C
ENST00000471180.5:c.634+54A>C	ENSP00000417526.1:n.634+54A>C
ENST00000473032.5:c.530-423A>C	ENSP00000418951.1:n.530-423A>C
ENST00000477382.1:c.*188A>C	ENSP00000419008.1:n.*188A>C
ENST00000486393.5:c.*432A>C	ENSP00000419868.1:n.*432A>C
ENST00000489173.1:n.1363A>C
NM_001144951.1:c.*188A>C	NP_001138423.1:n.*188A>C
NM_145262.3:c.1069A>C	NP_660305.2:p.Thr357Pro
NR_026699.1:n.1167A>C
NR_026700.1:n.695+54A>C
NR_026701.1:n.1165A>C
NR_026702.1:n.626-423A>C
XM_005264878.2:c.*188A>C	XP_005264935.1:n.*188A>C
XR_245095.2:n.2742+54A>C
XM_017005730.1:c.688A>C	XP_016861219.1:p.Thr230Pro
XM_024453351.1:c.1069A>C	XP_024309119.1:p.Thr357Pro
XM_024453352.1:c.*188A>C	XP_024309120.1:n.*188A>C
XR_001740022.2:n.2971A>C
XR_001740023.2:n.2917+54A>C
XR_245095.4:n.2743+54A>C
NM_145262.4:c.1069A>C MANE Select	NP_660305.2:p.Thr357Pro
NR_026699.2:n.1159A>C
NR_026700.2:n.687+54A>C
NR_026701.2:n.1157A>C
NR_026702.2:n.618-423A>C
NM_001144951.2:c.*188A>C	NP_001138423.1:n.*188A>C