Canonical Allele Identifier: CA3193091
Gene: SRD5A1 HGNC NCBI

Linked Data

dbSNP Id: rs3822430
gnomAD v2: 5-6651970-A-G
gnomAD v3: 5-6651857-A-G
gnomAD v4: 5-6651857-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.6651857A>G , CM000667.2:g.6651857A>G GRCh38
NC_000005.9:g.6651970A>G , CM000667.1:g.6651970A>G GRCh37
NC_000005.8:g.6704970A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000504286.2:c.309A>G ENSP00000518753.1:p.Pro103=
ENST00000510531.6:c.*430A>G ENSP00000425330.1:n.*430A>G
ENST00000274192.7:c.309A>G MANE Select ENSP00000274192.5:p.Pro103=
ENST00000274192.6:c.309A>G ENSP00000274192.5:p.Pro103=
ENST00000504286.1:n.430A>G
ENST00000510531.5:c.*430A>G ENSP00000425330.1:n.*430A>G
ENST00000513117.1:c.294-4221A>G ENSP00000421342.1:n.294-4221A>G
NM_001047.2:c.309A>G NP_001038.1:p.Pro103=
XM_011514103.1:c.320-4221A>G XP_011512405.1:n.320-4221A>G
NM_001047.3:c.309A>G NP_001038.1:p.Pro103=
NM_001324322.1:c.320-4221A>G NP_001311251.1:n.320-4221A>G
NM_001324323.1:c.90A>G NP_001311252.1:p.Pro30=
NR_136739.1:n.564A>G
NM_001047.4:c.309A>G MANE Select NP_001038.1:p.Pro103=
NM_001324322.2:c.320-4221A>G NP_001311251.1:n.320-4221A>G
NM_001324323.2:c.90A>G NP_001311252.1:p.Pro30=
NR_136739.2:n.446A>G