Canonical Allele Identifier: CA344580789
Gene: HSD11B1 HGNC NCBI
HSD11B1-AS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209706733G>T , CM000663.2:g.209706733G>T GRCh38
NC_000001.10:g.209880078G>T , CM000663.1:g.209880078G>T GRCh37
NC_000001.9:g.207946701G>T NCBI36
NG_012081.1:g.25529G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367027.5:c.244G>T (HSD11B1) MANE Select ENSP00000355994.3:p.Gly82Ter
ENST00000261465.5:c.244G>T (HSD11B1) ENSP00000261465.2:p.Gly82Ter
ENST00000367027.4:c.244G>T (HSD11B1) ENSP00000355994.3:p.Gly82Ter
ENST00000367028.6:c.244G>T (HSD11B1) ENSP00000355995.1:p.Gly82Ter
ENST00000615289.4:c.244G>T (HSD11B1) ENSP00000478430.1:p.Gly82Ter
NM_001206741.1:c.244G>T (HSD11B1) NP_001193670.1:p.Gly82Ter
NM_005525.3:c.244G>T (HSD11B1) NP_005516.1:p.Gly82Ter
NM_181755.2:c.244G>T (HSD11B1) NP_861420.1:p.Gly82Ter
XR_922542.1:n.3234+17297C>A (HSD11B1-AS1)
XR_922543.1:n.3225+17297C>A (HSD11B1-AS1)
XR_922547.1:n.3090+35764C>A (HSD11B1-AS1)
XR_922549.1:n.125-43672C>A (HSD11B1-AS1)
NR_134509.1:n.96+17297C>A (HSD11B1-AS1)
NR_134510.1:n.66+35764C>A (HSD11B1-AS1)
NM_005525.4:c.244G>T (HSD11B1) MANE Select NP_005516.1:p.Gly82Ter
NM_001206741.2:c.244G>T (HSD11B1) NP_001193670.1:p.Gly82Ter
NM_181755.3:c.244G>T (HSD11B1) NP_861420.1:p.Gly82Ter