Canonical Allele Identifier: CA344581370
Gene: HSD11B1 HGNC NCBI
HSD11B1-AS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209706806C>T , CM000663.2:g.209706806C>T GRCh38
NC_000001.10:g.209880151C>T , CM000663.1:g.209880151C>T GRCh37
NC_000001.9:g.207946774C>T NCBI36
NG_012081.1:g.25602C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367027.5:c.317C>T (HSD11B1) MANE Select ENSP00000355994.3:p.Ala106Val
ENST00000261465.5:c.317C>T (HSD11B1) ENSP00000261465.2:p.Ala106Val
ENST00000367027.4:c.317C>T (HSD11B1) ENSP00000355994.3:p.Ala106Val
ENST00000367028.6:c.317C>T (HSD11B1) ENSP00000355995.1:p.Ala106Val
ENST00000615289.4:c.317C>T (HSD11B1) ENSP00000478430.1:p.Ala106Val
NM_001206741.1:c.317C>T (HSD11B1) NP_001193670.1:p.Ala106Val
NM_005525.3:c.317C>T (HSD11B1) NP_005516.1:p.Ala106Val
NM_181755.2:c.317C>T (HSD11B1) NP_861420.1:p.Ala106Val
XR_922542.1:n.3234+17224G>A (HSD11B1-AS1)
XR_922543.1:n.3225+17224G>A (HSD11B1-AS1)
XR_922547.1:n.3090+35691G>A (HSD11B1-AS1)
XR_922549.1:n.125-43745G>A (HSD11B1-AS1)
NR_134509.1:n.96+17224G>A (HSD11B1-AS1)
NR_134510.1:n.66+35691G>A (HSD11B1-AS1)
NM_005525.4:c.317C>T (HSD11B1) MANE Select NP_005516.1:p.Ala106Val
NM_001206741.2:c.317C>T (HSD11B1) NP_001193670.1:p.Ala106Val
NM_181755.3:c.317C>T (HSD11B1) NP_861420.1:p.Ala106Val