Canonical Allele Identifier: CA3193093

Gene: SRD5A1

Linked Data

• dbSNP Id: rs764703580
• ExAC: 5:6651978 T / C
• gnomAD v2: 5-6651978-T-C
• gnomAD v4: 5-6651865-T-C
• MyVariant Identifiers: chr5:g.6651978T>C (hg19) ; chr5:g.6651865T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6651865T>C , CM000667.2:g.6651865T>C	GRCh38
NC_000005.9:g.6651978T>C , CM000667.1:g.6651978T>C	GRCh37
NC_000005.8:g.6704978T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504286.2:c.317T>C	ENSP00000518753.1:p.Met106Thr
ENST00000510531.6:c.*438T>C	ENSP00000425330.1:n.*438T>C
ENST00000274192.7:c.317T>C MANE Select	ENSP00000274192.5:p.Met106Thr
ENST00000274192.6:c.317T>C	ENSP00000274192.5:p.Met106Thr
ENST00000504286.1:n.438T>C
ENST00000510531.5:c.*438T>C	ENSP00000425330.1:n.*438T>C
ENST00000513117.1:c.294-4213T>C	ENSP00000421342.1:n.294-4213T>C
NM_001047.2:c.317T>C	NP_001038.1:p.Met106Thr
XM_011514103.1:c.320-4213T>C	XP_011512405.1:n.320-4213T>C
NM_001047.3:c.317T>C	NP_001038.1:p.Met106Thr
NM_001324322.1:c.320-4213T>C	NP_001311251.1:n.320-4213T>C
NM_001324323.1:c.98T>C	NP_001311252.1:p.Met33Thr
NR_136739.1:n.572T>C
NM_001047.4:c.317T>C MANE Select	NP_001038.1:p.Met106Thr
NM_001324322.2:c.320-4213T>C	NP_001311251.1:n.320-4213T>C
NM_001324323.2:c.98T>C	NP_001311252.1:p.Met33Thr
NR_136739.2:n.454T>C