Canonical Allele Identifier: CA353074742

Gene: GLYCTK

Linked Data

• MyVariant Identifiers: chr3:g.52326608G>C (hg19) ; chr3:g.52292592G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52292592G>C , CM000665.2:g.52292592G>C	GRCh38
NC_000003.11:g.52326608G>C , CM000665.1:g.52326608G>C	GRCh37
NC_000003.10:g.52301648G>C	NCBI36
NG_023246.1:g.9773G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1038G>C MANE Select	ENSP00000389175.2:p.Gln346His
ENST00000305690.12:c.*157G>C	ENSP00000301965.9:n.*157G>C
ENST00000436784.6:c.1038G>C	ENSP00000389175.2:p.Gln346His
ENST00000461183.5:c.763+23G>C	ENSP00000417264.1:n.763+23G>C
ENST00000471180.5:c.634+23G>C	ENSP00000417526.1:n.634+23G>C
ENST00000473032.5:c.530-454G>C	ENSP00000418951.1:n.530-454G>C
ENST00000477382.1:c.*157G>C	ENSP00000419008.1:n.*157G>C
ENST00000486393.5:c.*401G>C	ENSP00000419868.1:n.*401G>C
ENST00000489173.1:n.1332G>C
NM_001144951.1:c.*157G>C	NP_001138423.1:n.*157G>C
NM_145262.3:c.1038G>C	NP_660305.2:p.Gln346His
NR_026699.1:n.1136G>C
NR_026700.1:n.695+23G>C
NR_026701.1:n.1134G>C
NR_026702.1:n.626-454G>C
XM_005264878.2:c.*157G>C	XP_005264935.1:n.*157G>C
XR_245095.2:n.2742+23G>C
XM_017005730.1:c.657G>C	XP_016861219.1:p.Gln219His
XM_024453351.1:c.1038G>C	XP_024309119.1:p.Gln346His
XM_024453352.1:c.*157G>C	XP_024309120.1:n.*157G>C
XR_001740022.2:n.2940G>C
XR_001740023.2:n.2917+23G>C
XR_245095.4:n.2743+23G>C
NM_145262.4:c.1038G>C MANE Select	NP_660305.2:p.Gln346His
NR_026699.2:n.1128G>C
NR_026700.2:n.687+23G>C
NR_026701.2:n.1126G>C
NR_026702.2:n.618-454G>C
NM_001144951.2:c.*157G>C	NP_001138423.1:n.*157G>C