Canonical Allele Identifier: CA11994561
Community Standard Title: NM_001047.4(SRD5A1):c.563-963C>T
Gene: SRD5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.6661853C>T , CM000667.2:g.6661853C>T GRCh38
NC_000005.9:g.6661966C>T , CM000667.1:g.6661966C>T GRCh37
NC_000005.8:g.6714966C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001047.4:c.563-963C>T MANE Select NP_001038.1:n.563-963C>T
ENST00000274192.7:c.563-963C>T MANE Select ENSP00000274192.5:n.563-963C>T
NM_001047.2:c.563-963C>T NP_001038.1:n.563-963C>T
NM_001047.3:c.563-963C>T NP_001038.1:n.563-963C>T
NM_001324322.1:c.422-963C>T NP_001311251.1:n.422-963C>T
NM_001324322.2:c.422-963C>T NP_001311251.1:n.422-963C>T
NM_001324323.1:c.344-963C>T NP_001311252.1:n.344-963C>T
NM_001324323.2:c.344-963C>T NP_001311252.1:n.344-963C>T
NR_136739.1:n.1008-963C>T
NR_136739.2:n.890-963C>T
ENST00000274192.6:c.563-963C>T ENSP00000274192.5:n.563-963C>T
ENST00000504286.2:c.753-963C>T ENSP00000518753.1:n.753-963C>T
ENST00000510531.5:c.*684-963C>T ENSP00000425330.1:n.*684-963C>T
ENST00000510531.6:c.*684-963C>T ENSP00000425330.1:n.*684-963C>T
ENST00000513117.1:c.396-963C>T ENSP00000421342.1:n.396-963C>T
XM_011514103.1:c.422-963C>T XP_011512405.1:n.422-963C>T