Canonical Allele Identifier: CA74736696

Gene: GLYCTK

Linked Data

• dbSNP Id: rs983391369
• gnomAD v2: 3-52326618-C-T
• gnomAD v3: 3-52292602-C-T
• gnomAD v4: 3-52292602-C-T
• MyVariant Identifiers: chr3:g.52326618C>T (hg19) ; chr3:g.52292602C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52292602C>T , CM000665.2:g.52292602C>T	GRCh38
NC_000003.11:g.52326618C>T , CM000665.1:g.52326618C>T	GRCh37
NC_000003.10:g.52301658C>T	NCBI36
NG_023246.1:g.9783C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1048C>T MANE Select	ENSP00000389175.2:p.Leu350=
ENST00000305690.12:c.*167C>T	ENSP00000301965.9:n.*167C>T
ENST00000436784.6:c.1048C>T	ENSP00000389175.2:p.Leu350=
ENST00000461183.5:c.763+33C>T	ENSP00000417264.1:n.763+33C>T
ENST00000471180.5:c.634+33C>T	ENSP00000417526.1:n.634+33C>T
ENST00000473032.5:c.530-444C>T	ENSP00000418951.1:n.530-444C>T
ENST00000477382.1:c.*167C>T	ENSP00000419008.1:n.*167C>T
ENST00000486393.5:c.*411C>T	ENSP00000419868.1:n.*411C>T
ENST00000489173.1:n.1342C>T
NM_001144951.1:c.*167C>T	NP_001138423.1:n.*167C>T
NM_145262.3:c.1048C>T	NP_660305.2:p.Leu350=
NR_026699.1:n.1146C>T
NR_026700.1:n.695+33C>T
NR_026701.1:n.1144C>T
NR_026702.1:n.626-444C>T
XM_005264878.2:c.*167C>T	XP_005264935.1:n.*167C>T
XR_245095.2:n.2742+33C>T
XM_017005730.1:c.667C>T	XP_016861219.1:p.Leu223=
XM_024453351.1:c.1048C>T	XP_024309119.1:p.Leu350=
XM_024453352.1:c.*167C>T	XP_024309120.1:n.*167C>T
XR_001740022.2:n.2950C>T
XR_001740023.2:n.2917+33C>T
XR_245095.4:n.2743+33C>T
NM_145262.4:c.1048C>T MANE Select	NP_660305.2:p.Leu350=
NR_026699.2:n.1138C>T
NR_026700.2:n.687+33C>T
NR_026701.2:n.1136C>T
NR_026702.2:n.618-444C>T
NM_001144951.2:c.*167C>T	NP_001138423.1:n.*167C>T