Canonical Allele Identifier: CA2761730771
Gene: SRD5A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55346417dup , CM000666.2:g.55346417dup GRCh38
NC_000004.11:g.56212584dup , CM000666.1:g.56212584dup GRCh37
NC_000004.10:g.55907341dup NCBI36
NG_028230.1:g.5197dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000264228.9:c.81dup MANE Select ENSP00000264228.4:p.Leu28AlafsTer?
ENST00000679351.1:c.81dup ENSP00000505676.1:p.Leu28AlafsTer?
ENST00000679707.1:c.81dup ENSP00000505713.1:p.Leu28AlafsTer?
ENST00000679836.1:c.81dup ENSP00000506601.1:p.Leu28AlafsTer?
ENST00000680700.1:c.81dup ENSP00000504926.1:p.Leu28AlafsTer?
ENST00000264228.8:c.81dup ENSP00000264228.4:p.Leu28AlafsTer?
ENST00000505210.1:c.6dup ENSP00000424714.1:p.Leu3AlafsTer?
NM_024592.4:c.81dup NP_078868.1:p.Leu28AlafsTer?
XM_005265766.2:c.81dup XP_005265823.1:p.Leu28AlafsTer?
XM_005265767.2:c.81dup XP_005265824.1:p.Leu28AlafsTer?
XM_005265766.4:c.81dup XP_005265823.1:p.Leu28AlafsTer?
XM_005265767.3:c.81dup XP_005265824.1:p.Leu28AlafsTer?
NM_024592.5:c.81dup MANE Select NP_078868.1:p.Leu28AlafsTer?