Canonical Allele Identifier: CA5532080
Community Standard Title: NC_000010.11:g.69292327C>T
Gene: HK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69292327C>T , CM000672.2:g.69292327C>T GRCh38
NC_000010.10:g.71052083C>T , CM000672.1:g.71052083C>T GRCh37
NC_000010.9:g.70722089C>T NCBI36
NG_012077.1:g.27328C>T , LRG_365:g.27328C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001358263.1:c.28-3306C>T MANE Plus Clinical NP_001345192.1:n.28-3306C>T
ENST00000643399.2:c.28-3306C>T MANE Plus Clinical ENSP00000494664.1:n.28-3306C>T
NM_001322364.1:c.28-3306C>T NP_001309293.1:n.28-3306C>T
NM_001322364.2:c.28-3306C>T NP_001309293.1:n.28-3306C>T
NM_001322365.1:c.97C>T NP_001309294.1:p.Pro33Ser
NM_001322365.2:c.97C>T NP_001309294.1:p.Pro33Ser
NM_033497.2:c.28-3306C>T NP_277032.1:n.28-3306C>T
NM_033497.3:c.28-3306C>T NP_277032.1:n.28-3306C>T
NM_033498.2:c.28-3306C>T NP_277033.1:n.28-3306C>T
NM_033498.3:c.28-3306C>T NP_277033.1:n.28-3306C>T
NM_033500.2:c.-114-3306C>T , LRG_365t1:c.-114-3306C>T NP_277035.2:n.-114-3306C>T
ENST00000360289.6:c.-114-3306C>T ENSP00000353433.2:n.-114-3306C>T
ENST00000421088.5:c.-114-3306C>T ENSP00000398316.1:n.-114-3306C>T
ENST00000436817.6:c.28-3306C>T ENSP00000415949.2:n.28-3306C>T
ENST00000448642.6:c.28-3306C>T ENSP00000402103.3:n.28-3306C>T
ENST00000450646.5:c.28-3306C>T ENSP00000409761.1:n.28-3306C>T
ENST00000450646.6:c.28-3306C>T ENSP00000409761.2:n.28-3306C>T
ENST00000464803.5:n.386-3306C>T
ENST00000464803.6:c.97C>T ENSP00000496531.1:p.Pro33Ser
ENST00000476368.5:n.395-3306C>T
ENST00000476368.6:c.28-3306C>T ENSP00000495526.1:n.28-3306C>T
ENST00000479594.5:n.589-3306C>T
ENST00000480047.5:n.332-3306C>T
ENST00000483054.5:n.481-3306C>T
ENST00000483077.5:n.327-3306C>T
ENST00000488644.5:n.424-3306C>T
ENST00000703944.1:c.28-3306C>T ENSP00000515576.1:n.28-3306C>T
XM_005269736.1:c.28-3306C>T XP_005269793.1:n.28-3306C>T
XM_011539732.1:c.-114-3306C>T XP_011538034.1:n.-114-3306C>T
XM_024447969.1:c.28-3306C>T XP_024303737.1:n.28-3306C>T