Canonical Allele Identifier: CA2674263057
Gene: HMGCR HGNC NCBI

Linked Data

gnomAD v4: 5-75347070-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.75347070C>A , CM000667.2:g.75347070C>A GRCh38
NC_000005.9:g.74642895C>A , CM000667.1:g.74642895C>A GRCh37
NC_000005.8:g.74678651C>A NCBI36
NG_011449.1:g.14903C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000287936.9:c.451-134C>A MANE Select ENSP00000287936.4:n.451-134C>A
ENST00000679456.1:n.1288-134C>A
ENST00000680160.1:c.451-134C>A ENSP00000505315.1:n.451-134C>A
ENST00000680940.1:c.451-134C>A ENSP00000505561.1:n.451-134C>A
ENST00000681271.1:c.451-134C>A ENSP00000505805.1:n.451-134C>A
ENST00000681410.1:c.451-134C>A ENSP00000506232.1:n.451-134C>A
ENST00000681567.1:c.*1000-134C>A ENSP00000506708.1:n.*1000-134C>A
ENST00000287936.8:c.451-134C>A ENSP00000287936.4:n.451-134C>A
ENST00000343975.9:c.451-134C>A ENSP00000340816.5:n.451-134C>A
ENST00000511206.5:c.451-134C>A ENSP00000426745.1:n.451-134C>A
NM_000859.2:c.451-134C>A NP_000850.1:n.451-134C>A
NM_001130996.1:c.451-134C>A NP_001124468.1:n.451-134C>A
XM_011543357.1:c.511-134C>A XP_011541659.1:n.511-134C>A
XM_011543358.1:c.451-134C>A XP_011541660.1:n.451-134C>A
XM_011543359.1:c.511-134C>A XP_011541661.1:n.511-134C>A
NM_001364187.1:c.451-134C>A NP_001351116.1:n.451-134C>A
NM_000859.3:c.451-134C>A MANE Select NP_000850.1:n.451-134C>A
NM_001130996.2:c.451-134C>A NP_001124468.1:n.451-134C>A