Canonical Allele Identifier: CA1376330

Gene: HSD11B1 HSD11B1-AS1

Linked Data

• dbSNP Id: rs768366285
• ExAC: 1:209880170 G / A
• gnomAD v2: 1-209880170-G-A
• gnomAD v4: 1-209706825-G-A
• MyVariant Identifiers: chr1:g.209880170G>A (hg19) ; chr1:g.209706825G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209706825G>A , CM000663.2:g.209706825G>A	GRCh38
NC_000001.10:g.209880170G>A , CM000663.1:g.209880170G>A	GRCh37
NC_000001.9:g.207946793G>A	NCBI36
NG_012081.1:g.25621G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367027.5:c.331+5G>A (HSD11B1) MANE Select	ENSP00000355994.3:n.331+5G>A
ENST00000261465.5:c.331+5G>A (HSD11B1)	ENSP00000261465.2:n.331+5G>A
ENST00000367027.4:c.331+5G>A (HSD11B1)	ENSP00000355994.3:n.331+5G>A
ENST00000367028.6:c.331+5G>A (HSD11B1)	ENSP00000355995.1:n.331+5G>A
ENST00000615289.4:c.331+5G>A (HSD11B1)	ENSP00000478430.1:n.331+5G>A
NM_001206741.1:c.331+5G>A (HSD11B1)	NP_001193670.1:n.331+5G>A
NM_005525.3:c.331+5G>A (HSD11B1)	NP_005516.1:n.331+5G>A
NM_181755.2:c.331+5G>A (HSD11B1)	NP_861420.1:n.331+5G>A
XR_922542.1:n.3234+17205C>T (HSD11B1-AS1)
XR_922543.1:n.3225+17205C>T (HSD11B1-AS1)
XR_922547.1:n.3090+35672C>T (HSD11B1-AS1)
XR_922549.1:n.125-43764C>T (HSD11B1-AS1)
NR_134509.1:n.96+17205C>T (HSD11B1-AS1)
NR_134510.1:n.66+35672C>T (HSD11B1-AS1)
NM_005525.4:c.331+5G>A (HSD11B1) MANE Select	NP_005516.1:n.331+5G>A
NM_001206741.2:c.331+5G>A (HSD11B1)	NP_001193670.1:n.331+5G>A
NM_181755.3:c.331+5G>A (HSD11B1)	NP_861420.1:n.331+5G>A