Canonical Allele Identifier: CA443122129

Gene: SRD5A1

Linked Data

• gnomAD v4: 5-6651863-G-T
• MyVariant Identifiers: chr5:g.6651976G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6651863G>T , CM000667.2:g.6651863G>T	GRCh38
NC_000005.9:g.6651976G>T , CM000667.1:g.6651976G>T	GRCh37
NC_000005.8:g.6704976G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000504286.2:c.315G>T	ENSP00000518753.1:p.Leu105=
ENST00000510531.6:c.*436G>T	ENSP00000425330.1:n.*436G>T
ENST00000274192.7:c.315G>T MANE Select	ENSP00000274192.5:p.Leu105=
ENST00000274192.6:c.315G>T	ENSP00000274192.5:p.Leu105=
ENST00000504286.1:n.436G>T
ENST00000510531.5:c.*436G>T	ENSP00000425330.1:n.*436G>T
ENST00000513117.1:c.294-4215G>T	ENSP00000421342.1:n.294-4215G>T
NM_001047.2:c.315G>T	NP_001038.1:p.Leu105=
XM_011514103.1:c.320-4215G>T	XP_011512405.1:n.320-4215G>T
NM_001047.3:c.315G>T	NP_001038.1:p.Leu105=
NM_001324322.1:c.320-4215G>T	NP_001311251.1:n.320-4215G>T
NM_001324323.1:c.96G>T	NP_001311252.1:p.Leu32=
NR_136739.1:n.570G>T
NM_001047.4:c.315G>T MANE Select	NP_001038.1:p.Leu105=
NM_001324322.2:c.320-4215G>T	NP_001311251.1:n.320-4215G>T
NM_001324323.2:c.96G>T	NP_001311252.1:p.Leu32=
NR_136739.2:n.452G>T