Canonical Allele Identifier: CA433883055

Gene: GLYCTK

Linked Data

• dbSNP Id: rs1367977449
• gnomAD v2: 3-52326732-C-T
• MyVariant Identifiers: chr3:g.52326732C>T (hg19) ; chr3:g.52292716C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52292716C>T , CM000665.2:g.52292716C>T	GRCh38
NC_000003.11:g.52326732C>T , CM000665.1:g.52326732C>T	GRCh37
NC_000003.10:g.52301772C>T	NCBI36
NG_023246.1:g.9897C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1162C>T MANE Select	ENSP00000389175.2:p.Leu388=
ENST00000305690.12:c.*281C>T	ENSP00000301965.9:n.*281C>T
ENST00000436784.6:c.1162C>T	ENSP00000389175.2:p.Leu388=
ENST00000461183.5:c.763+147C>T	ENSP00000417264.1:n.763+147C>T
ENST00000471180.5:c.634+147C>T	ENSP00000417526.1:n.634+147C>T
ENST00000473032.5:c.530-330C>T	ENSP00000418951.1:n.530-330C>T
ENST00000477382.1:c.*281C>T	ENSP00000419008.1:n.*281C>T
ENST00000486393.5:c.*525C>T	ENSP00000419868.1:n.*525C>T
ENST00000489173.1:n.1456C>T
NM_001144951.1:c.*281C>T	NP_001138423.1:n.*281C>T
NM_145262.3:c.1162C>T	NP_660305.2:p.Leu388=
NR_026699.1:n.1260C>T
NR_026700.1:n.695+147C>T
NR_026701.1:n.1258C>T
NR_026702.1:n.626-330C>T
XM_005264878.2:c.*281C>T	XP_005264935.1:n.*281C>T
XR_245095.2:n.2742+147C>T
XM_017005730.1:c.781C>T	XP_016861219.1:p.Leu261=
XM_024453351.1:c.1162C>T	XP_024309119.1:p.Leu388=
XM_024453352.1:c.*281C>T	XP_024309120.1:n.*281C>T
XR_001740022.2:n.3064C>T
XR_001740023.2:n.2917+147C>T
XR_245095.4:n.2743+147C>T
NM_145262.4:c.1162C>T MANE Select	NP_660305.2:p.Leu388=
NR_026699.2:n.1252C>T
NR_026700.2:n.687+147C>T
NR_026701.2:n.1250C>T
NR_026702.2:n.618-330C>T
NM_001144951.2:c.*281C>T	NP_001138423.1:n.*281C>T