Canonical Allele Identifier: CA10912965

Gene: HSD11B1 HSD11B1-AS1

Linked Data

• dbSNP Id: rs11119328
• gnomAD v2: 1-209885318-C-A
• gnomAD v3: 1-209711973-C-A
• gnomAD v4: 1-209711973-C-A
• MyVariant Identifiers: chr1:g.209885318C>A (hg19) ; chr1:g.209711973C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209711973C>A , CM000663.2:g.209711973C>A	GRCh38
NC_000001.10:g.209885318C>A , CM000663.1:g.209885318C>A	GRCh37
NC_000001.9:g.207951941C>A	NCBI36
NG_012081.1:g.30769C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367027.5:c.517+4845C>A (HSD11B1) MANE Select	ENSP00000355994.3:n.517+4845C>A
ENST00000261465.5:c.517+4845C>A (HSD11B1)	ENSP00000261465.2:n.517+4845C>A
ENST00000367027.4:c.517+4845C>A (HSD11B1)	ENSP00000355994.3:n.517+4845C>A
ENST00000367028.6:c.517+4845C>A (HSD11B1)	ENSP00000355995.1:n.517+4845C>A
ENST00000615289.4:c.517+4845C>A (HSD11B1)	ENSP00000478430.1:n.517+4845C>A
NM_001206741.1:c.517+4845C>A (HSD11B1)	NP_001193670.1:n.517+4845C>A
NM_005525.3:c.517+4845C>A (HSD11B1)	NP_005516.1:n.517+4845C>A
NM_181755.2:c.517+4845C>A (HSD11B1)	NP_861420.1:n.517+4845C>A
XR_922542.1:n.3234+12057G>T (HSD11B1-AS1)
XR_922543.1:n.3225+12057G>T (HSD11B1-AS1)
XR_922547.1:n.3090+30524G>T (HSD11B1-AS1)
XR_922549.1:n.124+45503G>T (HSD11B1-AS1)
NR_134509.1:n.96+12057G>T (HSD11B1-AS1)
NR_134510.1:n.66+30524G>T (HSD11B1-AS1)
NM_005525.4:c.517+4845C>A (HSD11B1) MANE Select	NP_005516.1:n.517+4845C>A
NM_001206741.2:c.517+4845C>A (HSD11B1)	NP_001193670.1:n.517+4845C>A
NM_181755.3:c.517+4845C>A (HSD11B1)	NP_861420.1:n.517+4845C>A