Canonical Allele Identifier: CA5532060

Gene: HK1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69288762C>T , CM000672.2:g.69288762C>T	GRCh38
NC_000010.10:g.71048518C>T , CM000672.1:g.71048518C>T	GRCh37
NC_000010.9:g.70718524C>T	NCBI36
NG_012077.1:g.23763C>T , LRG_365:g.23763C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703944.1:c.19C>T	ENSP00000515576.1:p.Arg7Ter
ENST00000436817.6:c.19C>T	ENSP00000415949.2:p.Arg7Ter
ENST00000450646.6:c.19C>T	ENSP00000409761.2:p.Arg7Ter
ENST00000464803.6:c.19C>T	ENSP00000496531.1:p.Arg7Ter
ENST00000476368.6:c.19C>T	ENSP00000495526.1:p.Arg7Ter
ENST00000643399.2:c.19C>T MANE Plus Clinical	ENSP00000494664.1:p.Arg7Ter
ENST00000360289.6:c.-123C>T	ENSP00000353433.2:n.-123C>T
ENST00000421088.5:c.-123C>T	ENSP00000398316.1:n.-123C>T
ENST00000448642.6:c.19C>T	ENSP00000402103.3:p.Arg7Ter
ENST00000450646.5:c.19C>T	ENSP00000409761.1:p.Arg7Ter
ENST00000464803.5:n.377C>T
ENST00000476368.5:n.386C>T
ENST00000479594.5:n.580C>T
ENST00000480047.5:n.323C>T
ENST00000483054.5:n.472C>T
ENST00000483077.5:n.318C>T
ENST00000488644.5:n.415C>T
NM_033497.2:c.19C>T	NP_277032.1:p.Arg7Ter
NM_033498.2:c.19C>T	NP_277033.1:p.Arg7Ter
NM_033500.2:c.-123C>T , LRG_365t1:c.-123C>T	NP_277035.2:n.-123C>T
XM_005269736.1:c.19C>T	XP_005269793.1:p.Arg7Ter
XM_011539732.1:c.-123C>T	XP_011538034.1:n.-123C>T
NM_001322364.1:c.19C>T	NP_001309293.1:p.Arg7Ter
NM_001322365.1:c.19C>T	NP_001309294.1:p.Arg7Ter
NM_001358263.1:c.19C>T MANE Plus Clinical	NP_001345192.1:p.Arg7Ter
XM_024447969.1:c.19C>T	XP_024303737.1:p.Arg7Ter
NM_001322364.2:c.19C>T	NP_001309293.1:p.Arg7Ter
NM_001322365.2:c.19C>T	NP_001309294.1:p.Arg7Ter
NM_033497.3:c.19C>T	NP_277032.1:p.Arg7Ter
NM_033498.3:c.19C>T	NP_277033.1:p.Arg7Ter