Canonical Allele Identifier: CA353074719

Gene: GLYCTK

Linked Data

• dbSNP Id: rs1233588607
• gnomAD v2: 3-52326604-C-T
• gnomAD v3: 3-52292588-C-T
• gnomAD v4: 3-52292588-C-T
• MyVariant Identifiers: chr3:g.52326604C>T (hg19) ; chr3:g.52292588C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52292588C>T , CM000665.2:g.52292588C>T	GRCh38
NC_000003.11:g.52326604C>T , CM000665.1:g.52326604C>T	GRCh37
NC_000003.10:g.52301644C>T	NCBI36
NG_023246.1:g.9769C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1034C>T MANE Select	ENSP00000389175.2:p.Ala345Val
ENST00000305690.12:c.*153C>T	ENSP00000301965.9:n.*153C>T
ENST00000436784.6:c.1034C>T	ENSP00000389175.2:p.Ala345Val
ENST00000461183.5:c.763+19C>T	ENSP00000417264.1:n.763+19C>T
ENST00000471180.5:c.634+19C>T	ENSP00000417526.1:n.634+19C>T
ENST00000473032.5:c.530-458C>T	ENSP00000418951.1:n.530-458C>T
ENST00000477382.1:c.*153C>T	ENSP00000419008.1:n.*153C>T
ENST00000486393.5:c.*397C>T	ENSP00000419868.1:n.*397C>T
ENST00000489173.1:n.1328C>T
NM_001144951.1:c.*153C>T	NP_001138423.1:n.*153C>T
NM_145262.3:c.1034C>T	NP_660305.2:p.Ala345Val
NR_026699.1:n.1132C>T
NR_026700.1:n.695+19C>T
NR_026701.1:n.1130C>T
NR_026702.1:n.626-458C>T
XM_005264878.2:c.*153C>T	XP_005264935.1:n.*153C>T
XR_245095.2:n.2742+19C>T
XM_017005730.1:c.653C>T	XP_016861219.1:p.Ala218Val
XM_024453351.1:c.1034C>T	XP_024309119.1:p.Ala345Val
XM_024453352.1:c.*153C>T	XP_024309120.1:n.*153C>T
XR_001740022.2:n.2936C>T
XR_001740023.2:n.2917+19C>T
XR_245095.4:n.2743+19C>T
NM_145262.4:c.1034C>T MANE Select	NP_660305.2:p.Ala345Val
NR_026699.2:n.1124C>T
NR_026700.2:n.687+19C>T
NR_026701.2:n.1122C>T
NR_026702.2:n.618-458C>T
NM_001144951.2:c.*153C>T	NP_001138423.1:n.*153C>T