Canonical Allele Identifier: CA36748890

Gene: HSD11B1 HSD11B1-AS1

Linked Data

• dbSNP Id: rs2235543
• gnomAD v2: 1-209860668-T-C
• gnomAD v3: 1-209687323-T-C
• gnomAD v4: 1-209687323-T-C
• MyVariant Identifiers: chr1:g.209860668T>C (hg19) ; chr1:g.209687323T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209687323T>C , CM000663.2:g.209687323T>C	GRCh38
NC_000001.10:g.209860668T>C , CM000663.1:g.209860668T>C	GRCh37
NC_000001.9:g.207927291T>C	NCBI36
NG_012081.1:g.6119T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261465.5:c.-49+1038T>C (HSD11B1)	ENSP00000261465.2:n.-49+1038T>C
ENST00000367028.6:c.-49+1038T>C (HSD11B1)	ENSP00000355995.1:n.-49+1038T>C
ENST00000615289.4:c.-27+1038T>C (HSD11B1)	ENSP00000478430.1:n.-27+1038T>C
NM_001206741.1:c.-49+1038T>C (HSD11B1)	NP_001193670.1:n.-49+1038T>C
NM_181755.2:c.-27+1038T>C (HSD11B1)	NP_861420.1:n.-27+1038T>C
XR_922538.1:n.1689A>G
XR_922539.1:n.1689A>G
XR_922540.1:n.55A>G
XR_922542.1:n.3235-10790A>G (HSD11B1-AS1)
XR_922543.1:n.3226-24262A>G (HSD11B1-AS1)
XR_922547.1:n.3091-24262A>G (HSD11B1-AS1)
XR_922549.1:n.125-24262A>G (HSD11B1-AS1)
NR_134509.1:n.97-24262A>G (HSD11B1-AS1)
NR_134510.1:n.67-24262A>G (HSD11B1-AS1)
NM_001206741.2:c.-49+1038T>C (HSD11B1)	NP_001193670.1:n.-49+1038T>C
NM_181755.3:c.-27+1038T>C (HSD11B1)	NP_861420.1:n.-27+1038T>C