Canonical Allele Identifier: CA16618048
Gene: SRD5A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 423433
ClinVar RCV Id: RCV000484633
dbSNP Id: rs1064796421
MyVariant Identifiers: chr4:g.56212569del (hg19) chr4:g.55346402del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55346402del , CM000666.2:g.55346402del GRCh38
NC_000004.11:g.56212569del , CM000666.1:g.56212569del GRCh37
NC_000004.10:g.55907326del NCBI36
NG_028230.1:g.5182del

Transcript Alleles

HGVS Amino-acid change
ENST00000264228.9:c.66del MANE Select ENSP00000264228.4:p.Thr23ProfsTer6
ENST00000679351.1:c.66del ENSP00000505676.1:p.Thr23ProfsTer6
ENST00000679707.1:c.66del ENSP00000505713.1:p.Thr23ProfsTer6
ENST00000679836.1:c.66del ENSP00000506601.1:p.Thr23ProfsTer6
ENST00000680700.1:c.66del ENSP00000504926.1:p.Thr23ProfsTer6
ENST00000264228.8:c.66del ENSP00000264228.4:p.Thr23ProfsTer6
NM_024592.4:c.66del NP_078868.1:p.Thr23ProfsTer6
XM_005265766.2:c.66del XP_005265823.1:p.Thr23ProfsTer6
XM_005265767.2:c.66del XP_005265824.1:p.Thr23ProfsTer6
XM_005265766.4:c.66del XP_005265823.1:p.Thr23ProfsTer6
XM_005265767.3:c.66del XP_005265824.1:p.Thr23ProfsTer6
NM_024592.5:c.66del MANE Select NP_078868.1:p.Thr23ProfsTer6
Search 100 bp 5'
Search 100 bp 3'