Canonical Allele Identifier: CA353076180

Gene: GLYCTK

Linked Data

• gnomAD v4: 3-52292969-A-T
• MyVariant Identifiers: chr3:g.52326985A>T (hg19) ; chr3:g.52292969A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52292969A>T , CM000665.2:g.52292969A>T	GRCh38
NC_000003.11:g.52326985A>T , CM000665.1:g.52326985A>T	GRCh37
NC_000003.10:g.52302025A>T	NCBI36
NG_023246.1:g.10150A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000436784.7:c.1415A>T MANE Select	ENSP00000389175.2:p.Gln472Leu
ENST00000305690.12:c.*534A>T	ENSP00000301965.9:n.*534A>T
ENST00000436784.6:c.1415A>T	ENSP00000389175.2:p.Gln472Leu
ENST00000461183.5:c.764-77A>T	ENSP00000417264.1:n.764-77A>T
ENST00000471180.5:c.635-77A>T	ENSP00000417526.1:n.635-77A>T
ENST00000473032.5:c.530-77A>T	ENSP00000418951.1:n.530-77A>T
ENST00000477382.1:c.*534A>T	ENSP00000419008.1:n.*534A>T
ENST00000486393.5:c.*778A>T	ENSP00000419868.1:n.*778A>T
ENST00000489173.1:n.1709A>T
NM_001144951.1:c.*534A>T	NP_001138423.1:n.*534A>T
NM_145262.3:c.1415A>T	NP_660305.2:p.Gln472Leu
NR_026699.1:n.1513A>T
NR_026700.1:n.696-77A>T
NR_026701.1:n.1511A>T
NR_026702.1:n.626-77A>T
XM_005264878.2:c.*534A>T	XP_005264935.1:n.*534A>T
XR_245095.2:n.2743-77A>T
XM_017005730.1:c.1034A>T	XP_016861219.1:p.Gln345Leu
XM_024453351.1:c.1415A>T	XP_024309119.1:p.Gln472Leu
XM_024453352.1:c.*534A>T	XP_024309120.1:n.*534A>T
XR_001740022.2:n.3317A>T
XR_001740023.2:n.2918-77A>T
XR_245095.4:n.2744-77A>T
NM_145262.4:c.1415A>T MANE Select	NP_660305.2:p.Gln472Leu
NR_026699.2:n.1505A>T
NR_026700.2:n.688-77A>T
NR_026701.2:n.1503A>T
NR_026702.2:n.618-77A>T
NM_001144951.2:c.*534A>T	NP_001138423.1:n.*534A>T