Canonical Allele Identifier: CA353076611

Gene: GLYCTK

Linked Data

• gnomAD v4: 3-52293060-G-C
• MyVariant Identifiers: chr3:g.52327076G>C (hg19) ; chr3:g.52293060G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52293060G>C , CM000665.2:g.52293060G>C	GRCh38
NC_000003.11:g.52327076G>C , CM000665.1:g.52327076G>C	GRCh37
NC_000003.10:g.52302116G>C	NCBI36
NG_023246.1:g.10241G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1506G>C MANE Select	ENSP00000389175.2:p.Leu502=
ENST00000436784.6:c.1506G>C	ENSP00000389175.2:p.Leu502=
ENST00000461183.5:c.778G>C	ENSP00000417264.1:p.Ala260Pro
ENST00000471180.5:c.649G>C	ENSP00000417526.1:p.Ala217Pro
ENST00000473032.5:c.544G>C	ENSP00000418951.1:p.Ala182Pro
ENST00000486393.5:c.*869G>C	ENSP00000419868.1:n.*869G>C
ENST00000489173.1:n.1800G>C
NM_145262.3:c.1506G>C	NP_660305.2:p.Leu502=
NR_026699.1:n.1604G>C
NR_026700.1:n.710G>C
NR_026701.1:n.1602G>C
NR_026702.1:n.640G>C
XM_005264878.2:c.*625G>C	XP_005264935.1:n.*625G>C
XR_245095.2:n.2757G>C
XM_017005730.1:c.1125G>C	XP_016861219.1:p.Leu375=
XM_024453351.1:c.1506G>C	XP_024309119.1:p.Leu502=
XM_024453352.1:c.*625G>C	XP_024309120.1:n.*625G>C
XR_001740022.2:n.3408G>C
XR_001740023.2:n.2932G>C
XR_245095.4:n.2758G>C
NM_145262.4:c.1506G>C MANE Select	NP_660305.2:p.Leu502=
NR_026699.2:n.1596G>C
NR_026700.2:n.702G>C
NR_026701.2:n.1594G>C
NR_026702.2:n.632G>C
NM_001144951.2:c.*625G>C	NP_001138423.1:n.*625G>C