Canonical Allele Identifier: CA353076839

Gene: GLYCTK

Linked Data

• dbSNP Id: rs2153221213
• gnomAD v4: 3-52293105-C-T
• MyVariant Identifiers: chr3:g.52327121C>T (hg19) ; chr3:g.52293105C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52293105C>T , CM000665.2:g.52293105C>T	GRCh38
NC_000003.11:g.52327121C>T , CM000665.1:g.52327121C>T	GRCh37
NC_000003.10:g.52302161C>T	NCBI36
NG_023246.1:g.10286C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1551C>T MANE Select	ENSP00000389175.2:p.Leu517=
ENST00000436784.6:c.1551C>T	ENSP00000389175.2:p.Leu517=
ENST00000461183.5:c.823C>T	ENSP00000417264.1:p.Leu275Phe
ENST00000471180.5:c.694C>T	ENSP00000417526.1:p.Leu232Phe
ENST00000473032.5:c.589C>T	ENSP00000418951.1:p.Leu197Phe
ENST00000486393.5:c.*914C>T	ENSP00000419868.1:n.*914C>T
ENST00000489173.1:n.1845C>T
NM_145262.3:c.1551C>T	NP_660305.2:p.Leu517=
NR_026699.1:n.1649C>T
NR_026700.1:n.755C>T
NR_026701.1:n.1647C>T
NR_026702.1:n.685C>T
XM_005264878.2:c.*670C>T	XP_005264935.1:n.*670C>T
XR_245095.2:n.2802C>T
XM_017005730.1:c.1170C>T	XP_016861219.1:p.Leu390=
XM_024453351.1:c.1551C>T	XP_024309119.1:p.Leu517=
XM_024453352.1:c.*670C>T	XP_024309120.1:n.*670C>T
XR_001740022.2:n.3453C>T
XR_001740023.2:n.2977C>T
XR_245095.4:n.2803C>T
NM_145262.4:c.1551C>T MANE Select	NP_660305.2:p.Leu517=
NR_026699.2:n.1641C>T
NR_026700.2:n.747C>T
NR_026701.2:n.1639C>T
NR_026702.2:n.677C>T
NM_001144951.2:c.*670C>T	NP_001138423.1:n.*670C>T