Canonical Allele Identifier: CA1047961827

Gene: GLYCTK

Linked Data

• dbSNP Id: rs1359219335
• gnomAD v3: 3-52293242-C-T
• gnomAD v4: 3-52293242-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52293242C>T , CM000665.2:g.52293242C>T	GRCh38
NC_000003.11:g.52327258C>T , CM000665.1:g.52327258C>T	GRCh37
NC_000003.10:g.52302298C>T	NCBI36
NG_023246.1:g.10423C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.*116C>T MANE Select	ENSP00000389175.2:n.*116C>T
ENST00000436784.6:c.*116C>T	ENSP00000389175.2:n.*116C>T
ENST00000471180.5:c.*58+50C>T	ENSP00000417526.1:n.*58+50C>T
ENST00000473032.5:c.*58+50C>T	ENSP00000418951.1:n.*58+50C>T
ENST00000486393.5:c.*1051C>T	ENSP00000419868.1:n.*1051C>T
ENST00000489173.1:n.1915-65C>T
NM_145262.3:c.*116C>T	NP_660305.2:n.*116C>T
NR_026699.1:n.1786C>T
NR_026700.1:n.842+50C>T
NR_026701.1:n.1734+50C>T
NR_026702.1:n.772+50C>T
XM_005264878.2:c.*807C>T	XP_005264935.1:n.*807C>T
XR_245095.2:n.2889+50C>T
XM_017005730.1:c.*116C>T	XP_016861219.1:n.*116C>T
XM_024453351.1:c.*116C>T	XP_024309119.1:n.*116C>T
XM_024453352.1:c.*807C>T	XP_024309120.1:n.*807C>T
XR_001740022.2:n.3540+50C>T
XR_001740023.2:n.3064+50C>T
XR_245095.4:n.2890+50C>T
NM_145262.4:c.*116C>T MANE Select	NP_660305.2:n.*116C>T
NR_026699.2:n.1778C>T
NR_026700.2:n.834+50C>T
NR_026701.2:n.1726+50C>T
NR_026702.2:n.764+50C>T
NM_001144951.2:c.*807C>T	NP_001138423.1:n.*807C>T