Canonical Allele Identifier: CA2432255

Gene: GLYCTK

Linked Data

• dbSNP Id: rs781480140
• ExAC: 3:52326701 G / A
• gnomAD v2: 3-52326701-G-A
• gnomAD v3: 3-52292685-G-A
• gnomAD v4: 3-52292685-G-A
• MyVariant Identifiers: chr3:g.52326701G>A (hg19) ; chr3:g.52292685G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52292685G>A , CM000665.2:g.52292685G>A	GRCh38
NC_000003.11:g.52326701G>A , CM000665.1:g.52326701G>A	GRCh37
NC_000003.10:g.52301741G>A	NCBI36
NG_023246.1:g.9866G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1131G>A MANE Select	ENSP00000389175.2:p.Leu377=
ENST00000305690.12:c.*250G>A	ENSP00000301965.9:n.*250G>A
ENST00000436784.6:c.1131G>A	ENSP00000389175.2:p.Leu377=
ENST00000461183.5:c.763+116G>A	ENSP00000417264.1:n.763+116G>A
ENST00000471180.5:c.634+116G>A	ENSP00000417526.1:n.634+116G>A
ENST00000473032.5:c.530-361G>A	ENSP00000418951.1:n.530-361G>A
ENST00000477382.1:c.*250G>A	ENSP00000419008.1:n.*250G>A
ENST00000486393.5:c.*494G>A	ENSP00000419868.1:n.*494G>A
ENST00000489173.1:n.1425G>A
NM_001144951.1:c.*250G>A	NP_001138423.1:n.*250G>A
NM_145262.3:c.1131G>A	NP_660305.2:p.Leu377=
NR_026699.1:n.1229G>A
NR_026700.1:n.695+116G>A
NR_026701.1:n.1227G>A
NR_026702.1:n.626-361G>A
XM_005264878.2:c.*250G>A	XP_005264935.1:n.*250G>A
XR_245095.2:n.2742+116G>A
XM_017005730.1:c.750G>A	XP_016861219.1:p.Leu250=
XM_024453351.1:c.1131G>A	XP_024309119.1:p.Leu377=
XM_024453352.1:c.*250G>A	XP_024309120.1:n.*250G>A
XR_001740022.2:n.3033G>A
XR_001740023.2:n.2917+116G>A
XR_245095.4:n.2743+116G>A
NM_145262.4:c.1131G>A MANE Select	NP_660305.2:p.Leu377=
NR_026699.2:n.1221G>A
NR_026700.2:n.687+116G>A
NR_026701.2:n.1219G>A
NR_026702.2:n.618-361G>A
NM_001144951.2:c.*250G>A	NP_001138423.1:n.*250G>A