Canonical Allele Identifier: CA813985675

Gene: HMGCR

Linked Data

• dbSNP Id: rs1459044394
• gnomAD v4: 5-75355293-G-T
• MyVariant Identifiers: chr5:g.74651118G>T (hg19) ; chr5:g.75355293G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75355293G>T , CM000667.2:g.75355293G>T	GRCh38
NC_000005.9:g.74651118G>T , CM000667.1:g.74651118G>T	GRCh37
NC_000005.8:g.74686874G>T	NCBI36
NG_011449.1:g.23126G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287936.9:c.1723-72G>T MANE Select	ENSP00000287936.4:n.1723-72G>T
ENST00000679456.1:n.2560-72G>T
ENST00000680160.1:c.1723-72G>T	ENSP00000505315.1:n.1723-72G>T
ENST00000680940.1:c.1723-72G>T	ENSP00000505561.1:n.1723-72G>T
ENST00000681271.1:c.1723-72G>T	ENSP00000505805.1:n.1723-72G>T
ENST00000681410.1:c.1723-72G>T	ENSP00000506232.1:n.1723-72G>T
ENST00000681567.1:c.*2272-72G>T	ENSP00000506708.1:n.*2272-72G>T
ENST00000287936.8:c.1723-72G>T	ENSP00000287936.4:n.1723-72G>T
ENST00000343975.9:c.1564-72G>T	ENSP00000340816.5:n.1564-72G>T
ENST00000508070.1:n.114G>T
ENST00000511206.5:c.1723-72G>T	ENSP00000426745.1:n.1723-72G>T
NM_000859.2:c.1723-72G>T	NP_000850.1:n.1723-72G>T
NM_001130996.1:c.1564-72G>T	NP_001124468.1:n.1564-72G>T
XM_011543357.1:c.1783-72G>T	XP_011541659.1:n.1783-72G>T
XM_011543358.1:c.1723-72G>T	XP_011541660.1:n.1723-72G>T
XM_011543359.1:c.1624-72G>T	XP_011541661.1:n.1624-72G>T
NM_001364187.1:c.1723-72G>T	NP_001351116.1:n.1723-72G>T
NM_000859.3:c.1723-72G>T MANE Select	NP_000850.1:n.1723-72G>T
NM_001130996.2:c.1564-72G>T	NP_001124468.1:n.1564-72G>T