Canonical Allele Identifier: CA376909668

Gene: HK1

Linked Data

• dbSNP Id: rs1839444255
• gnomAD v4: 10-69382569-G-A
• MyVariant Identifiers: chr10:g.71142325G>A (hg19) ; chr10:g.69382569G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69382569G>A , CM000672.2:g.69382569G>A	GRCh38
NC_000010.10:g.71142325G>A , CM000672.1:g.71142325G>A	GRCh37
NC_000010.9:g.70812331G>A	NCBI36
NG_012077.1:g.117570G>A , LRG_365:g.117570G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470050.2:c.1348G>A	ENSP00000515580.1:p.Gly450Ser
ENST00000703945.1:c.1264G>A	ENSP00000515578.1:p.Gly422Ser
ENST00000703946.1:c.1265+2474G>A	ENSP00000515579.1:n.1265+2474G>A
ENST00000703947.1:c.958G>A	ENSP00000515581.1:p.Gly320Ser
ENST00000703948.1:c.*965G>A	ENSP00000515582.1:n.*965G>A
ENST00000703949.1:c.1348G>A	ENSP00000515583.1:p.Gly450Ser
ENST00000703950.1:c.1348G>A	ENSP00000515584.1:p.Gly450Ser
ENST00000703951.1:c.1265+2474G>A	ENSP00000515585.1:n.1265+2474G>A
ENST00000703952.1:c.1265+2474G>A	ENSP00000515586.1:n.1265+2474G>A
ENST00000703953.1:c.*611G>A	ENSP00000515587.1:n.*611G>A
ENST00000703954.1:c.1228G>A	ENSP00000515588.1:p.Gly410Ser
ENST00000703955.1:n.1898G>A
ENST00000298649.8:c.1345G>A	ENSP00000298649.3:p.Gly449Ser
ENST00000359426.7:c.1348G>A MANE Select	ENSP00000352398.6:p.Gly450Ser
ENST00000436817.6:c.1360G>A	ENSP00000415949.2:p.Gly454Ser
ENST00000493591.6:c.*1236G>A	ENSP00000494917.1:n.*1236G>A
ENST00000643399.2:c.1360G>A MANE Plus Clinical	ENSP00000494664.1:p.Gly454Ser
ENST00000298649.7:c.1345G>A	ENSP00000298649.3:p.Gly449Ser
ENST00000359426.6:c.1348G>A	ENSP00000352398.6:p.Gly450Ser
ENST00000360289.6:c.1312G>A	ENSP00000353433.2:p.Gly438Ser
ENST00000448642.6:c.1360G>A	ENSP00000402103.3:p.Gly454Ser
ENST00000494253.1:n.1574G>A
NM_000188.2:c.1348G>A	NP_000179.2:p.Gly450Ser
NM_033496.2:c.1345G>A	NP_277031.1:p.Gly449Ser
NM_033497.2:c.1360G>A	NP_277032.1:p.Gly454Ser
NM_033498.2:c.1360G>A	NP_277033.1:p.Gly454Ser
NM_033500.2:c.1312G>A , LRG_365t1:c.1312G>A	NP_277035.2:p.Gly438Ser
XM_005269735.2:c.1477G>A	XP_005269792.1:p.Gly493Ser
XM_005269736.1:c.1360G>A	XP_005269793.1:p.Gly454Ser
XM_005269737.1:c.1264G>A	XP_005269794.1:p.Gly422Ser
XM_011539732.1:c.1312G>A	XP_011538034.1:p.Gly438Ser
XM_011539733.1:c.1306G>A	XP_011538035.1:p.Gly436Ser
XM_011539734.1:c.1303G>A	XP_011538036.1:p.Gly435Ser
NM_001322364.1:c.1360G>A	NP_001309293.1:p.Gly454Ser
NM_001322365.1:c.1453G>A	NP_001309294.1:p.Gly485Ser
NM_001322366.1:c.1264G>A	NP_001309295.1:p.Gly422Ser
NM_001322367.1:c.1252G>A	NP_001309296.1:p.Gly418Ser
NM_001358263.1:c.1360G>A MANE Plus Clinical	NP_001345192.1:p.Gly454Ser
XM_024447969.1:c.1360G>A	XP_024303737.1:p.Gly454Ser
NM_000188.3:c.1348G>A MANE Select	NP_000179.2:p.Gly450Ser
NM_001322364.2:c.1360G>A	NP_001309293.1:p.Gly454Ser
NM_001322365.2:c.1453G>A	NP_001309294.1:p.Gly485Ser
NM_033496.3:c.1345G>A	NP_277031.1:p.Gly449Ser
NM_033497.3:c.1360G>A	NP_277032.1:p.Gly454Ser
NM_033498.3:c.1360G>A	NP_277033.1:p.Gly454Ser