Canonical Allele Identifier: CA5532089
Gene: HK1 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69295633G>T , CM000672.2:g.69295633G>T GRCh38
NC_000010.10:g.71055389G>T , CM000672.1:g.71055389G>T GRCh37
NC_000010.9:g.70725395G>T NCBI36
NG_012077.1:g.30634G>T , LRG_365:g.30634G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703944.1:c.28G>T ENSP00000515576.1:p.Ala10Ser
ENST00000436817.6:c.28G>T ENSP00000415949.2:p.Ala10Ser
ENST00000450646.6:c.28G>T ENSP00000409761.2:p.Ala10Ser
ENST00000464803.6:c.121G>T ENSP00000496531.1:p.Ala41Ser
ENST00000476368.6:c.28G>T ENSP00000495526.1:p.Ala10Ser
ENST00000643399.2:c.28G>T MANE Plus Clinical ENSP00000494664.1:p.Ala10Ser
ENST00000360289.6:c.-114G>T ENSP00000353433.2:n.-114G>T
ENST00000421088.5:c.-114G>T ENSP00000398316.1:n.-114G>T
ENST00000448642.6:c.28G>T ENSP00000402103.3:p.Ala10Ser
ENST00000450646.5:c.28G>T ENSP00000409761.1:p.Ala10Ser
ENST00000464803.5:n.386G>T
ENST00000476368.5:n.395G>T
ENST00000479594.5:n.589G>T
ENST00000480047.5:n.332G>T
ENST00000483054.5:n.481G>T
ENST00000483077.5:n.327G>T
ENST00000488644.5:n.424G>T
NM_033497.2:c.28G>T NP_277032.1:p.Ala10Ser
NM_033498.2:c.28G>T NP_277033.1:p.Ala10Ser
NM_033500.2:c.-114G>T , LRG_365t1:c.-114G>T NP_277035.2:n.-114G>T
XM_005269736.1:c.28G>T XP_005269793.1:p.Ala10Ser
XM_011539732.1:c.-114G>T XP_011538034.1:n.-114G>T
NM_001322364.1:c.28G>T NP_001309293.1:p.Ala10Ser
NM_001322365.1:c.121G>T NP_001309294.1:p.Ala41Ser
NM_001358263.1:c.28G>T MANE Plus Clinical NP_001345192.1:p.Ala10Ser
XM_024447969.1:c.28G>T XP_024303737.1:p.Ala10Ser
NM_001322364.2:c.28G>T NP_001309293.1:p.Ala10Ser
NM_001322365.2:c.121G>T NP_001309294.1:p.Ala41Ser
NM_033497.3:c.28G>T NP_277032.1:p.Ala10Ser
NM_033498.3:c.28G>T NP_277033.1:p.Ala10Ser