Canonical Allele Identifier: CA730832796

Gene: HSD11B1 HSD11B1-AS1

Linked Data

• dbSNP Id: rs1419533371
• gnomAD v3: 1-209687245-G-A
• gnomAD v4: 1-209687245-G-A
• MyVariant Identifiers: chr1:g.209860590G>A (hg19) ; chr1:g.209687245G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209687245G>A , CM000663.2:g.209687245G>A	GRCh38
NC_000001.10:g.209860590G>A , CM000663.1:g.209860590G>A	GRCh37
NC_000001.9:g.207927213G>A	NCBI36
NG_012081.1:g.6041G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261465.5:c.-49+960G>A (HSD11B1)	ENSP00000261465.2:n.-49+960G>A
ENST00000367028.6:c.-49+960G>A (HSD11B1)	ENSP00000355995.1:n.-49+960G>A
ENST00000615289.4:c.-27+960G>A (HSD11B1)	ENSP00000478430.1:n.-27+960G>A
NM_001206741.1:c.-49+960G>A (HSD11B1)	NP_001193670.1:n.-49+960G>A
NM_181755.2:c.-27+960G>A (HSD11B1)	NP_861420.1:n.-27+960G>A
XR_922538.1:n.1767C>T
XR_922539.1:n.1761+6C>T
XR_922540.1:n.133C>T
XR_922542.1:n.3235-10712C>T (HSD11B1-AS1)
XR_922543.1:n.3226-24184C>T (HSD11B1-AS1)
XR_922547.1:n.3091-24184C>T (HSD11B1-AS1)
XR_922549.1:n.125-24184C>T (HSD11B1-AS1)
NR_134509.1:n.97-24184C>T (HSD11B1-AS1)
NR_134510.1:n.67-24184C>T (HSD11B1-AS1)
NM_001206741.2:c.-49+960G>A (HSD11B1)	NP_001193670.1:n.-49+960G>A
NM_181755.3:c.-27+960G>A (HSD11B1)	NP_861420.1:n.-27+960G>A