Canonical Allele Identifier: CA10576153
Gene: HMGCR HGNC NCBI

Linked Data

ClinVar Variation Id: 225958
dbSNP Id: rs17244841

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.75347030A>T , CM000667.2:g.75347030A>T GRCh38
NC_000005.9:g.74642855A>T , CM000667.1:g.74642855A>T GRCh37
NC_000005.8:g.74678611A>T NCBI36
NG_011449.1:g.14863A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000287936.9:c.451-174A>T MANE Select ENSP00000287936.4:p.=
ENST00000679456.1:n.1288-174A>T
ENST00000680160.1:c.451-174A>T ENSP00000505315.1:p.=
ENST00000680940.1:c.451-174A>T ENSP00000505561.1:p.=
ENST00000681271.1:c.451-174A>T ENSP00000505805.1:p.=
ENST00000681410.1:c.451-174A>T ENSP00000506232.1:p.=
ENST00000681567.1:c.*1000-174A>T ENSP00000506708.1:p.=
ENST00000287936.8:c.451-174A>T ENSP00000287936.4:p.=
ENST00000343975.9:c.451-174A>T ENSP00000340816.5:p.=
ENST00000511206.5:c.451-174A>T ENSP00000426745.1:p.=
NM_000859.2:c.451-174A>T NP_000850.1:p.=
NM_001130996.1:c.451-174A>T NP_001124468.1:p.=
XM_011543357.1:c.511-174A>T XP_011541659.1:p.=
XM_011543358.1:c.451-174A>T XP_011541660.1:p.=
XM_011543359.1:c.511-174A>T XP_011541661.1:p.=
NM_001364187.1:c.451-174A>T NP_001351116.1:p.=
NM_000859.3:c.451-174A>T MANE Select NP_000850.1:p.=
NM_001130996.2:c.451-174A>T NP_001124468.1:p.=