Canonical Allele Identifier: CA12094778
Gene: SRD5A1 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.6666971T>C
GRCh37 chr5:g.6667084T>C
gnomAD v2:
5:6667084 T / C
gnomAD v3:
5:6666971 T / C
gnomAD v4:
chr5-6666971-T-C
Joint Max Group AF 0.32312124 (AFR)
Genomes Max Group AF 0.32312124 (AFR)
dbSNP:
3797177
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.6666971T>C , CM000667.2:g.6666971T>C GRCh38
NC_000005.9:g.6667084T>C , CM000667.1:g.6667084T>C GRCh37
NC_000005.8:g.6720084T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000504286.2:c.*139-1231T>C ENSP00000518753.1:n.*139-1231T>C
ENST00000510531.6:c.*835-1231T>C ENSP00000425330.1:n.*835-1231T>C
ENST00000274192.7:c.714-1231T>C MANE Select ENSP00000274192.5:n.714-1231T>C
ENST00000274192.6:c.714-1231T>C ENSP00000274192.5:n.714-1231T>C
ENST00000510531.5:c.*835-1231T>C ENSP00000425330.1:n.*835-1231T>C
ENST00000513117.1:c.*139-1231T>C ENSP00000421342.1:n.*139-1231T>C
NM_001047.2:c.714-1231T>C NP_001038.1:n.714-1231T>C
XM_011514103.1:c.573-1231T>C XP_011512405.1:n.573-1231T>C
NM_001047.3:c.714-1231T>C NP_001038.1:n.714-1231T>C
NM_001324322.1:c.573-1231T>C NP_001311251.1:n.573-1231T>C
NM_001324323.1:c.495-1231T>C NP_001311252.1:n.495-1231T>C
NR_136739.1:n.1159-1231T>C
NM_001047.4:c.714-1231T>C MANE Select NP_001038.1:n.714-1231T>C
NM_001324322.2:c.573-1231T>C NP_001311251.1:n.573-1231T>C
NM_001324323.2:c.495-1231T>C NP_001311252.1:n.495-1231T>C
NR_136739.2:n.1041-1231T>C
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