Canonical Allele Identifier: CA344582843

Gene: HSD11B1 HSD11B1-AS1

Linked Data

• dbSNP Id: rs2076864242
• gnomAD v4: 1-209707034-A-C
• MyVariant Identifiers: chr1:g.209880379A>C (hg19) ; chr1:g.209707034A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209707034A>C , CM000663.2:g.209707034A>C	GRCh38
NC_000001.10:g.209880379A>C , CM000663.1:g.209880379A>C	GRCh37
NC_000001.9:g.207947002A>C	NCBI36
NG_012081.1:g.25830A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367027.5:c.423A>C (HSD11B1) MANE Select	ENSP00000355994.3:p.Glu141Asp
ENST00000261465.5:c.423A>C (HSD11B1)	ENSP00000261465.2:p.Glu141Asp
ENST00000367027.4:c.423A>C (HSD11B1)	ENSP00000355994.3:p.Glu141Asp
ENST00000367028.6:c.423A>C (HSD11B1)	ENSP00000355995.1:p.Glu141Asp
ENST00000615289.4:c.423A>C (HSD11B1)	ENSP00000478430.1:p.Glu141Asp
NM_001206741.1:c.423A>C (HSD11B1)	NP_001193670.1:p.Glu141Asp
NM_005525.3:c.423A>C (HSD11B1)	NP_005516.1:p.Glu141Asp
NM_181755.2:c.423A>C (HSD11B1)	NP_861420.1:p.Glu141Asp
XR_922542.1:n.3234+16996T>G (HSD11B1-AS1)
XR_922543.1:n.3225+16996T>G (HSD11B1-AS1)
XR_922547.1:n.3090+35463T>G (HSD11B1-AS1)
XR_922549.1:n.125-43973T>G (HSD11B1-AS1)
NR_134509.1:n.96+16996T>G (HSD11B1-AS1)
NR_134510.1:n.66+35463T>G (HSD11B1-AS1)
NM_005525.4:c.423A>C (HSD11B1) MANE Select	NP_005516.1:p.Glu141Asp
NM_001206741.2:c.423A>C (HSD11B1)	NP_001193670.1:p.Glu141Asp
NM_181755.3:c.423A>C (HSD11B1)	NP_861420.1:p.Glu141Asp