Canonical Allele Identifier: CA1376357

Gene: HSD11B1 HSD11B1-AS1

Linked Data

• dbSNP Id: rs376208100
• ExAC: 1:209880366 G / A
• gnomAD v2: 1-209880366-G-A
• gnomAD v3: 1-209707021-G-A
• gnomAD v4: 1-209707021-G-A
• MyVariant Identifiers: chr1:g.209880366G>A (hg19) ; chr1:g.209707021G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209707021G>A , CM000663.2:g.209707021G>A	GRCh38
NC_000001.10:g.209880366G>A , CM000663.1:g.209880366G>A	GRCh37
NC_000001.9:g.207946989G>A	NCBI36
NG_012081.1:g.25817G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367027.5:c.410G>A (HSD11B1) MANE Select	ENSP00000355994.3:p.Arg137His
ENST00000261465.5:c.410G>A (HSD11B1)	ENSP00000261465.2:p.Arg137His
ENST00000367027.4:c.410G>A (HSD11B1)	ENSP00000355994.3:p.Arg137His
ENST00000367028.6:c.410G>A (HSD11B1)	ENSP00000355995.1:p.Arg137His
ENST00000615289.4:c.410G>A (HSD11B1)	ENSP00000478430.1:p.Arg137His
NM_001206741.1:c.410G>A (HSD11B1)	NP_001193670.1:p.Arg137His
NM_005525.3:c.410G>A (HSD11B1)	NP_005516.1:p.Arg137His
NM_181755.2:c.410G>A (HSD11B1)	NP_861420.1:p.Arg137His
XR_922542.1:n.3234+17009C>T (HSD11B1-AS1)
XR_922543.1:n.3225+17009C>T (HSD11B1-AS1)
XR_922547.1:n.3090+35476C>T (HSD11B1-AS1)
XR_922549.1:n.125-43960C>T (HSD11B1-AS1)
NR_134509.1:n.96+17009C>T (HSD11B1-AS1)
NR_134510.1:n.66+35476C>T (HSD11B1-AS1)
NM_005525.4:c.410G>A (HSD11B1) MANE Select	NP_005516.1:p.Arg137His
NM_001206741.2:c.410G>A (HSD11B1)	NP_001193670.1:p.Arg137His
NM_181755.3:c.410G>A (HSD11B1)	NP_861420.1:p.Arg137His