Canonical Allele Identifier: CA347429
Gene: HK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 208363
ClinVar RCV Id: RCV000194396
dbSNP Id: rs797044964

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69278691G>C , CM000672.2:g.69278691G>C GRCh38
NC_000010.10:g.71038447G>C , CM000672.1:g.71038447G>C GRCh37
NC_000010.9:g.70708453G>C NCBI36
NG_012077.1:g.13692G>C , LRG_365:g.13692G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000703944.1:c.-269-3838G>C ENSP00000515576.1:n.-269-3838G>C
ENST00000436817.6:c.-195-3838G>C ENSP00000415949.2:n.-195-3838G>C
ENST00000450646.6:c.-249-3838G>C ENSP00000409761.2:n.-249-3838G>C
ENST00000464803.6:c.-195-3838G>C ENSP00000496531.1:n.-195-3838G>C
ENST00000476368.6:c.-195-3838G>C ENSP00000495526.1:n.-195-3838G>C
ENST00000643399.2:c.-290G>C MANE Plus Clinical ENSP00000494664.1:n.-290G>C
ENST00000360289.6:c.-390-3838G>C ENSP00000353433.2:n.-390-3838G>C
ENST00000448642.6:c.-249-3838G>C ENSP00000402103.3:n.-249-3838G>C
ENST00000450646.5:c.-195-3838G>C ENSP00000409761.1:n.-195-3838G>C
ENST00000464803.5:n.110-3838G>C
ENST00000476368.5:n.173-3838G>C
ENST00000479594.5:n.272G>C
ENST00000480047.5:n.110-3838G>C
ENST00000483054.5:n.164G>C
ENST00000483077.5:n.105-3838G>C
ENST00000488644.5:n.107G>C
NM_033497.2:c.-195-3838G>C NP_277032.1:n.-195-3838G>C
NM_033498.2:c.-249-3838G>C NP_277033.1:n.-249-3838G>C
NM_033500.2:c.-390-3838G>C , LRG_365t1:c.-390-3838G>C NP_277035.2:n.-390-3838G>C
XM_005269736.1:c.-74+8583G>C XP_005269793.1:n.-74+8583G>C
XM_011539732.1:c.-336-3838G>C XP_011538034.1:n.-336-3838G>C
NM_001322364.1:c.-74+8583G>C NP_001309293.1:n.-74+8583G>C
NM_001322365.1:c.-195-3838G>C NP_001309294.1:n.-195-3838G>C
NM_001358263.1:c.-290G>C MANE Plus Clinical NP_001345192.1:n.-290G>C
XM_024447969.1:c.-430-3838G>C XP_024303737.1:n.-430-3838G>C
NM_001322364.2:c.-74+8583G>C NP_001309293.1:n.-74+8583G>C
NM_001322365.2:c.-195-3838G>C NP_001309294.1:n.-195-3838G>C
NM_033497.3:c.-195-3838G>C NP_277032.1:n.-195-3838G>C
NM_033498.3:c.-249-3838G>C NP_277033.1:n.-249-3838G>C