Canonical Allele Identifier: CA120879943

Gene: HMGCR

Linked Data

• dbSNP Id: rs897511685
• gnomAD v2: 5-74636376-A-G
• gnomAD v3: 5-75340551-A-G
• gnomAD v4: 5-75340551-A-G
• MyVariant Identifiers: chr5:g.74636376A>G (hg19) ; chr5:g.75340551A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75340551A>G , CM000667.2:g.75340551A>G	GRCh38
NC_000005.9:g.74636376A>G , CM000667.1:g.74636376A>G	GRCh37
NC_000005.8:g.74672132A>G	NCBI36
NG_011449.1:g.8384A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287936.9:c.-23-2032A>G MANE Select	ENSP00000287936.4:n.-23-2032A>G
ENST00000679456.1:n.122-2032A>G
ENST00000680160.1:c.-23-2032A>G	ENSP00000505315.1:n.-23-2032A>G
ENST00000680940.1:c.-161A>G	ENSP00000505561.1:n.-161A>G
ENST00000681271.1:c.-23-2032A>G	ENSP00000505805.1:n.-23-2032A>G
ENST00000681410.1:c.-23-2032A>G	ENSP00000506232.1:n.-23-2032A>G
ENST00000681567.1:c.-23-2032A>G	ENSP00000506708.1:n.-23-2032A>G
ENST00000287936.8:c.-23-2032A>G	ENSP00000287936.4:n.-23-2032A>G
ENST00000343975.9:c.-23-2032A>G	ENSP00000340816.5:n.-23-2032A>G
ENST00000442032.2:c.-24+830A>G	ENSP00000409100.2:n.-24+830A>G
ENST00000507942.1:c.-23-2032A>G	ENSP00000427340.1:n.-23-2032A>G
ENST00000509431.1:n.56-2032A>G
ENST00000511206.5:c.-23-2032A>G	ENSP00000426745.1:n.-23-2032A>G
NM_000859.2:c.-23-2032A>G	NP_000850.1:n.-23-2032A>G
NM_001130996.1:c.-23-2032A>G	NP_001124468.1:n.-23-2032A>G
XM_011543357.1:c.38-2032A>G	XP_011541659.1:n.38-2032A>G
XM_011543358.1:c.-23-2032A>G	XP_011541660.1:n.-23-2032A>G
XM_011543359.1:c.38-2032A>G	XP_011541661.1:n.38-2032A>G
NM_001364187.1:c.-23-2032A>G	NP_001351116.1:n.-23-2032A>G
NM_000859.3:c.-23-2032A>G MANE Select	NP_000850.1:n.-23-2032A>G
NM_001130996.2:c.-23-2032A>G	NP_001124468.1:n.-23-2032A>G