Canonical Allele Identifier: CA36753489
Gene: HSD11B1 HGNC NCBI
HSD11B1-AS1 HGNC NCBI
dbSNP:
1000283
gnomAD v2:
1:209894661 G / A
gnomAD v3:
1:209721316 G / A
gnomAD v4:
chr1-209721316-G-A
Joint Max Group AF 0.20003301 (NFE)
Genomes Max Group AF 0.20003301 (NFE)
MyVariant.info:
GRCh38 chr1:g.209721316G>A
GRCh37 chr1:g.209894661G>A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209721316G>A , CM000663.2:g.209721316G>A GRCh38
NC_000001.10:g.209894661G>A , CM000663.1:g.209894661G>A GRCh37
NC_000001.9:g.207961284G>A NCBI36
NG_012081.1:g.40112G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367027.5:c.518-11120G>A (HSD11B1) MANE Select ENSP00000355994.3:n.518-11120G>A
ENST00000261465.5:c.518-11120G>A (HSD11B1) ENSP00000261465.2:n.518-11120G>A
ENST00000367027.4:c.518-11120G>A (HSD11B1) ENSP00000355994.3:n.518-11120G>A
ENST00000367028.6:c.518-11120G>A (HSD11B1) ENSP00000355995.1:n.518-11120G>A
ENST00000615289.4:c.518-11120G>A (HSD11B1) ENSP00000478430.1:n.518-11120G>A
NM_001206741.1:c.518-11120G>A (HSD11B1) NP_001193670.1:n.518-11120G>A
NM_005525.3:c.518-11120G>A (HSD11B1) NP_005516.1:n.518-11120G>A
NM_181755.2:c.518-11120G>A (HSD11B1) NP_861420.1:n.518-11120G>A
XR_922542.1:n.3234+2714C>T (HSD11B1-AS1)
XR_922543.1:n.3225+2714C>T (HSD11B1-AS1)
XR_922547.1:n.3090+21181C>T (HSD11B1-AS1)
XR_922549.1:n.124+36160C>T (HSD11B1-AS1)
NR_134509.1:n.96+2714C>T (HSD11B1-AS1)
NR_134510.1:n.66+21181C>T (HSD11B1-AS1)
NM_005525.4:c.518-11120G>A (HSD11B1) MANE Select NP_005516.1:n.518-11120G>A
NM_001206741.2:c.518-11120G>A (HSD11B1) NP_001193670.1:n.518-11120G>A
NM_181755.3:c.518-11120G>A (HSD11B1) NP_861420.1:n.518-11120G>A
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