Canonical Allele Identifier: CA376908326
Community Standard Title: NC_000010.11:g.69288744A>G
Gene: HK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69288744A>G , CM000672.2:g.69288744A>G GRCh38
NC_000010.10:g.71048500A>G , CM000672.1:g.71048500A>G GRCh37
NC_000010.9:g.70718506A>G NCBI36
NG_012077.1:g.23745A>G , LRG_365:g.23745A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001358263.1:c.1A>G MANE Plus Clinical NP_001345192.1:p.Met1Val
ENST00000643399.2:c.1A>G MANE Plus Clinical ENSP00000494664.1:p.Met1Val
NM_001322364.1:c.1A>G NP_001309293.1:p.Met1Val
NM_001322364.2:c.1A>G NP_001309293.1:p.Met1Val
NM_001322365.1:c.1A>G NP_001309294.1:p.Met1Val
NM_001322365.2:c.1A>G NP_001309294.1:p.Met1Val
NM_033497.2:c.1A>G NP_277032.1:p.Met1Val
NM_033497.3:c.1A>G NP_277032.1:p.Met1Val
NM_033498.2:c.1A>G NP_277033.1:p.Met1Val
NM_033498.3:c.1A>G NP_277033.1:p.Met1Val
NM_033500.2:c.-141A>G , LRG_365t1:c.-141A>G NP_277035.2:n.-141A>G
ENST00000360289.6:c.-141A>G ENSP00000353433.2:n.-141A>G
ENST00000421088.5:c.-141A>G ENSP00000398316.1:n.-141A>G
ENST00000436817.6:c.1A>G ENSP00000415949.2:p.Met1Val
ENST00000448642.6:c.1A>G ENSP00000402103.3:p.Met1Val
ENST00000450646.5:c.1A>G ENSP00000409761.1:p.Met1Val
ENST00000450646.6:c.1A>G ENSP00000409761.2:p.Met1Val
ENST00000464803.5:n.359A>G
ENST00000464803.6:c.1A>G ENSP00000496531.1:p.Met1Val
ENST00000476368.5:n.368A>G
ENST00000476368.6:c.1A>G ENSP00000495526.1:p.Met1Val
ENST00000479594.5:n.562A>G
ENST00000480047.5:n.305A>G
ENST00000483054.5:n.454A>G
ENST00000483077.5:n.300A>G
ENST00000488644.5:n.397A>G
ENST00000703944.1:c.1A>G ENSP00000515576.1:p.Met1Val
XM_005269736.1:c.1A>G XP_005269793.1:p.Met1Val
XM_011539732.1:c.-141A>G XP_011538034.1:n.-141A>G
XM_024447969.1:c.1A>G XP_024303737.1:p.Met1Val