Canonical Allele Identifier: CA813971084

Gene: HMGCR

Linked Data

• dbSNP Id: rs1425707113
• gnomAD v3: 5-75340512-A-C
• gnomAD v4: 5-75340512-A-C
• MyVariant Identifiers: chr5:g.74636337A>C (hg19) ; chr5:g.75340512A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75340512A>C , CM000667.2:g.75340512A>C	GRCh38
NC_000005.9:g.74636337A>C , CM000667.1:g.74636337A>C	GRCh37
NC_000005.8:g.74672093A>C	NCBI36
NG_011449.1:g.8345A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287936.9:c.-23-2071A>C MANE Select	ENSP00000287936.4:n.-23-2071A>C
ENST00000679456.1:n.122-2071A>C
ENST00000680160.1:c.-23-2071A>C	ENSP00000505315.1:n.-23-2071A>C
ENST00000680940.1:c.-200A>C	ENSP00000505561.1:n.-200A>C
ENST00000681271.1:c.-23-2071A>C	ENSP00000505805.1:n.-23-2071A>C
ENST00000681410.1:c.-23-2071A>C	ENSP00000506232.1:n.-23-2071A>C
ENST00000681567.1:c.-23-2071A>C	ENSP00000506708.1:n.-23-2071A>C
ENST00000287936.8:c.-23-2071A>C	ENSP00000287936.4:n.-23-2071A>C
ENST00000343975.9:c.-23-2071A>C	ENSP00000340816.5:n.-23-2071A>C
ENST00000442032.2:c.-24+791A>C	ENSP00000409100.2:n.-24+791A>C
ENST00000507942.1:c.-23-2071A>C	ENSP00000427340.1:n.-23-2071A>C
ENST00000509431.1:n.56-2071A>C
ENST00000511206.5:c.-23-2071A>C	ENSP00000426745.1:n.-23-2071A>C
NM_000859.2:c.-23-2071A>C	NP_000850.1:n.-23-2071A>C
NM_001130996.1:c.-23-2071A>C	NP_001124468.1:n.-23-2071A>C
XM_011543357.1:c.38-2071A>C	XP_011541659.1:n.38-2071A>C
XM_011543358.1:c.-23-2071A>C	XP_011541660.1:n.-23-2071A>C
XM_011543359.1:c.38-2071A>C	XP_011541661.1:n.38-2071A>C
NM_001364187.1:c.-23-2071A>C	NP_001351116.1:n.-23-2071A>C
NM_000859.3:c.-23-2071A>C MANE Select	NP_000850.1:n.-23-2071A>C
NM_001130996.2:c.-23-2071A>C	NP_001124468.1:n.-23-2071A>C