Canonical Allele Identifier: CA69508797

Gene: HRH1

Linked Data

• dbSNP Id: rs200792231
• gnomAD v2: 3-11301476-A-G
• gnomAD v3: 3-11259790-A-G
• gnomAD v4: 3-11259790-A-G
• MyVariant Identifiers: chr3:g.11301476A>G (hg19) ; chr3:g.11259790A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.11259790A>G , CM000665.2:g.11259790A>G	GRCh38
NC_000003.11:g.11301476A>G , CM000665.1:g.11301476A>G	GRCh37
NC_000003.10:g.11276476A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000431010.3:c.753A>G MANE Select	ENSP00000397028.2:p.Pro251=
ENST00000397056.1:c.753A>G	ENSP00000380247.1:p.Pro251=
ENST00000431010.2:c.753A>G	ENSP00000397028.2:p.Pro251=
ENST00000438284.2:c.753A>G	ENSP00000406705.2:p.Pro251=
NM_000861.3:c.753A>G	NP_000852.1:p.Pro251=
NM_001098211.1:c.753A>G	NP_001091681.1:p.Pro251=
NM_001098212.1:c.753A>G	NP_001091682.1:p.Pro251=
NM_001098213.1:c.753A>G	NP_001091683.1:p.Pro251=
XM_011533652.1:c.753A>G	XP_011531954.1:p.Pro251=
XM_011533653.1:c.753A>G	XP_011531955.1:p.Pro251=
XM_011533654.1:c.753A>G	XP_011531956.1:p.Pro251=
XM_011533655.1:c.753A>G	XP_011531957.1:p.Pro251=
XM_011533653.2:c.753A>G	XP_011531955.1:p.Pro251=
XM_017006283.1:c.753A>G	XP_016861772.1:p.Pro251=
XM_017006284.1:c.753A>G	XP_016861773.1:p.Pro251=
NM_001098211.2:c.753A>G	NP_001091681.1:p.Pro251=
NM_001098212.2:c.753A>G MANE Select	NP_001091682.1:p.Pro251=
NM_001098213.2:c.753A>G	NP_001091683.1:p.Pro251=