Canonical Allele Identifier: CA2674263051
Gene: HMGCR HGNC NCBI

Linked Data

gnomAD v4: 5-75347062-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.75347062C>G , CM000667.2:g.75347062C>G GRCh38
NC_000005.9:g.74642887C>G , CM000667.1:g.74642887C>G GRCh37
NC_000005.8:g.74678643C>G NCBI36
NG_011449.1:g.14895C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000287936.9:c.451-142C>G MANE Select ENSP00000287936.4:n.451-142C>G
ENST00000679456.1:n.1288-142C>G
ENST00000680160.1:c.451-142C>G ENSP00000505315.1:n.451-142C>G
ENST00000680940.1:c.451-142C>G ENSP00000505561.1:n.451-142C>G
ENST00000681271.1:c.451-142C>G ENSP00000505805.1:n.451-142C>G
ENST00000681410.1:c.451-142C>G ENSP00000506232.1:n.451-142C>G
ENST00000681567.1:c.*1000-142C>G ENSP00000506708.1:n.*1000-142C>G
ENST00000287936.8:c.451-142C>G ENSP00000287936.4:n.451-142C>G
ENST00000343975.9:c.451-142C>G ENSP00000340816.5:n.451-142C>G
ENST00000511206.5:c.451-142C>G ENSP00000426745.1:n.451-142C>G
NM_000859.2:c.451-142C>G NP_000850.1:n.451-142C>G
NM_001130996.1:c.451-142C>G NP_001124468.1:n.451-142C>G
XM_011543357.1:c.511-142C>G XP_011541659.1:n.511-142C>G
XM_011543358.1:c.451-142C>G XP_011541660.1:n.451-142C>G
XM_011543359.1:c.511-142C>G XP_011541661.1:n.511-142C>G
NM_001364187.1:c.451-142C>G NP_001351116.1:n.451-142C>G
NM_000859.3:c.451-142C>G MANE Select NP_000850.1:n.451-142C>G
NM_001130996.2:c.451-142C>G NP_001124468.1:n.451-142C>G