Canonical Allele Identifier: CA5532136

Gene: HK1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69300865C>T , CM000672.2:g.69300865C>T	GRCh38
NC_000010.10:g.71060621C>T , CM000672.1:g.71060621C>T	GRCh37
NC_000010.9:g.70730627C>T	NCBI36
NG_012077.1:g.35866C>T , LRG_365:g.35866C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703944.1:c.75+5185C>T	ENSP00000515576.1:n.75+5185C>T
ENST00000436817.6:c.75+5185C>T	ENSP00000415949.2:n.75+5185C>T
ENST00000450646.6:c.75+5185C>T	ENSP00000409761.2:n.75+5185C>T
ENST00000464803.6:c.168+5185C>T	ENSP00000496531.1:n.168+5185C>T
ENST00000476368.6:c.75+5185C>T	ENSP00000495526.1:n.75+5185C>T
ENST00000643399.2:c.75+5185C>T MANE Plus Clinical	ENSP00000494664.1:n.75+5185C>T
ENST00000360289.6:c.27+4C>T	ENSP00000353433.2:n.27+4C>T
ENST00000421088.5:c.27+4C>T	ENSP00000398316.1:n.27+4C>T
ENST00000448642.6:c.75+5185C>T	ENSP00000402103.3:n.75+5185C>T
ENST00000450646.5:c.75+5185C>T	ENSP00000409761.1:n.75+5185C>T
ENST00000464803.5:n.433+5185C>T
ENST00000476368.5:n.442+5185C>T
ENST00000480047.5:n.379+5185C>T
ENST00000483054.5:n.528+5185C>T
ENST00000483077.5:n.467+4C>T
NM_033497.2:c.75+5185C>T	NP_277032.1:n.75+5185C>T
NM_033498.2:c.75+5185C>T	NP_277033.1:n.75+5185C>T
NM_033500.2:c.27+4C>T , LRG_365t1:c.27+4C>T	NP_277035.2:n.27+4C>T
XM_005269736.1:c.75+5185C>T	XP_005269793.1:n.75+5185C>T
XM_011539732.1:c.27+4C>T	XP_011538034.1:n.27+4C>T
NM_001322364.1:c.75+5185C>T	NP_001309293.1:n.75+5185C>T
NM_001322365.1:c.168+5185C>T	NP_001309294.1:n.168+5185C>T
NM_001358263.1:c.75+5185C>T MANE Plus Clinical	NP_001345192.1:n.75+5185C>T
XM_024447969.1:c.75+5185C>T	XP_024303737.1:n.75+5185C>T
NM_001322364.2:c.75+5185C>T	NP_001309293.1:n.75+5185C>T
NM_001322365.2:c.168+5185C>T	NP_001309294.1:n.168+5185C>T
NM_033497.3:c.75+5185C>T	NP_277032.1:n.75+5185C>T
NM_033498.3:c.75+5185C>T	NP_277033.1:n.75+5185C>T