Canonical Allele Identifier: CA2673164844
Gene: SRD5A1 HGNC NCBI

Linked Data

gnomAD v4: 5-6651717-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.6651717A>T , CM000667.2:g.6651717A>T GRCh38
NC_000005.9:g.6651830A>T , CM000667.1:g.6651830A>T GRCh37
NC_000005.8:g.6704830A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000504286.2:c.294-125A>T ENSP00000518753.1:n.294-125A>T
ENST00000510531.6:c.*415-125A>T ENSP00000425330.1:n.*415-125A>T
ENST00000274192.7:c.294-125A>T MANE Select ENSP00000274192.5:n.294-125A>T
ENST00000274192.6:c.294-125A>T ENSP00000274192.5:n.294-125A>T
ENST00000504286.1:n.415-125A>T
ENST00000510531.5:c.*415-125A>T ENSP00000425330.1:n.*415-125A>T
ENST00000513117.1:c.294-4361A>T ENSP00000421342.1:n.294-4361A>T
NM_001047.2:c.294-125A>T NP_001038.1:n.294-125A>T
XM_011514103.1:c.320-4361A>T XP_011512405.1:n.320-4361A>T
NM_001047.3:c.294-125A>T NP_001038.1:n.294-125A>T
NM_001324322.1:c.320-4361A>T NP_001311251.1:n.320-4361A>T
NM_001324323.1:c.75-125A>T NP_001311252.1:n.75-125A>T
NR_136739.1:n.549-125A>T
NM_001047.4:c.294-125A>T MANE Select NP_001038.1:n.294-125A>T
NM_001324322.2:c.320-4361A>T NP_001311251.1:n.320-4361A>T
NM_001324323.2:c.75-125A>T NP_001311252.1:n.75-125A>T
NR_136739.2:n.431-125A>T