Canonical Allele Identifier: CA2650327525

Gene: HSD11B1 HSD11B1-AS1

Linked Data

• gnomAD v4: 1-209732314-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209732314T>C , CM000663.2:g.209732314T>C	GRCh38
NC_000001.10:g.209905659T>C , CM000663.1:g.209905659T>C	GRCh37
NC_000001.9:g.207972282T>C	NCBI36
NG_012081.1:g.51110T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367027.5:c.518-122T>C (HSD11B1) MANE Select	ENSP00000355994.3:n.518-122T>C
ENST00000261465.5:c.518-122T>C (HSD11B1)	ENSP00000261465.2:n.518-122T>C
ENST00000367027.4:c.518-122T>C (HSD11B1)	ENSP00000355994.3:n.518-122T>C
ENST00000367028.6:c.518-122T>C (HSD11B1)	ENSP00000355995.1:n.518-122T>C
ENST00000615289.4:c.518-122T>C (HSD11B1)	ENSP00000478430.1:n.518-122T>C
NM_001206741.1:c.518-122T>C (HSD11B1)	NP_001193670.1:n.518-122T>C
NM_005525.3:c.518-122T>C (HSD11B1)	NP_005516.1:n.518-122T>C
NM_181755.2:c.518-122T>C (HSD11B1)	NP_861420.1:n.518-122T>C
XR_922542.1:n.3120-8170A>G (HSD11B1-AS1)
XR_922543.1:n.3111-8170A>G (HSD11B1-AS1)
XR_922547.1:n.3090+10183A>G (HSD11B1-AS1)
XR_922549.1:n.124+25162A>G (HSD11B1-AS1)
NR_134510.1:n.66+10183A>G (HSD11B1-AS1)
NM_005525.4:c.518-122T>C (HSD11B1) MANE Select	NP_005516.1:n.518-122T>C
NM_001206741.2:c.518-122T>C (HSD11B1)	NP_001193670.1:n.518-122T>C
NM_181755.3:c.518-122T>C (HSD11B1)	NP_861420.1:n.518-122T>C