Canonical Allele Identifier: CA344581406

Gene: HSD11B1 HSD11B1-AS1

Linked Data

• dbSNP Id: rs780563325
• gnomAD v2: 1-209880159-C-A
• gnomAD v3: 1-209706814-C-A
• gnomAD v4: 1-209706814-C-A
• MyVariant Identifiers: chr1:g.209880159C>A (hg19) ; chr1:g.209706814C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209706814C>A , CM000663.2:g.209706814C>A	GRCh38
NC_000001.10:g.209880159C>A , CM000663.1:g.209880159C>A	GRCh37
NC_000001.9:g.207946782C>A	NCBI36
NG_012081.1:g.25610C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367027.5:c.325C>A (HSD11B1) MANE Select	ENSP00000355994.3:p.Leu109Ile
ENST00000261465.5:c.325C>A (HSD11B1)	ENSP00000261465.2:p.Leu109Ile
ENST00000367027.4:c.325C>A (HSD11B1)	ENSP00000355994.3:p.Leu109Ile
ENST00000367028.6:c.325C>A (HSD11B1)	ENSP00000355995.1:p.Leu109Ile
ENST00000615289.4:c.325C>A (HSD11B1)	ENSP00000478430.1:p.Leu109Ile
NM_001206741.1:c.325C>A (HSD11B1)	NP_001193670.1:p.Leu109Ile
NM_005525.3:c.325C>A (HSD11B1)	NP_005516.1:p.Leu109Ile
NM_181755.2:c.325C>A (HSD11B1)	NP_861420.1:p.Leu109Ile
XR_922542.1:n.3234+17216G>T (HSD11B1-AS1)
XR_922543.1:n.3225+17216G>T (HSD11B1-AS1)
XR_922547.1:n.3090+35683G>T (HSD11B1-AS1)
XR_922549.1:n.125-43753G>T (HSD11B1-AS1)
NR_134509.1:n.96+17216G>T (HSD11B1-AS1)
NR_134510.1:n.66+35683G>T (HSD11B1-AS1)
NM_005525.4:c.325C>A (HSD11B1) MANE Select	NP_005516.1:p.Leu109Ile
NM_001206741.2:c.325C>A (HSD11B1)	NP_001193670.1:p.Leu109Ile
NM_181755.3:c.325C>A (HSD11B1)	NP_861420.1:p.Leu109Ile