Canonical Allele Identifier: CA433883007

Gene: GLYCTK

Linked Data

• dbSNP Id: rs1700519126
• gnomAD v3: 3-52292658-G-C
• gnomAD v4: 3-52292658-G-C
• MyVariant Identifiers: chr3:g.52326674G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52292658G>C , CM000665.2:g.52292658G>C	GRCh38
NC_000003.11:g.52326674G>C , CM000665.1:g.52326674G>C	GRCh37
NC_000003.10:g.52301714G>C	NCBI36
NG_023246.1:g.9839G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1104G>C MANE Select	ENSP00000389175.2:p.Val368=
ENST00000305690.12:c.*223G>C	ENSP00000301965.9:n.*223G>C
ENST00000436784.6:c.1104G>C	ENSP00000389175.2:p.Val368=
ENST00000461183.5:c.763+89G>C	ENSP00000417264.1:n.763+89G>C
ENST00000471180.5:c.634+89G>C	ENSP00000417526.1:n.634+89G>C
ENST00000473032.5:c.530-388G>C	ENSP00000418951.1:n.530-388G>C
ENST00000477382.1:c.*223G>C	ENSP00000419008.1:n.*223G>C
ENST00000486393.5:c.*467G>C	ENSP00000419868.1:n.*467G>C
ENST00000489173.1:n.1398G>C
NM_001144951.1:c.*223G>C	NP_001138423.1:n.*223G>C
NM_145262.3:c.1104G>C	NP_660305.2:p.Val368=
NR_026699.1:n.1202G>C
NR_026700.1:n.695+89G>C
NR_026701.1:n.1200G>C
NR_026702.1:n.626-388G>C
XM_005264878.2:c.*223G>C	XP_005264935.1:n.*223G>C
XR_245095.2:n.2742+89G>C
XM_017005730.1:c.723G>C	XP_016861219.1:p.Val241=
XM_024453351.1:c.1104G>C	XP_024309119.1:p.Val368=
XM_024453352.1:c.*223G>C	XP_024309120.1:n.*223G>C
XR_001740022.2:n.3006G>C
XR_001740023.2:n.2917+89G>C
XR_245095.4:n.2743+89G>C
NM_145262.4:c.1104G>C MANE Select	NP_660305.2:p.Val368=
NR_026699.2:n.1194G>C
NR_026700.2:n.687+89G>C
NR_026701.2:n.1192G>C
NR_026702.2:n.618-388G>C
NM_001144951.2:c.*223G>C	NP_001138423.1:n.*223G>C