Canonical Allele Identifier: CA1028962798

Gene: SRD5A2

Linked Data

• dbSNP Id: rs1665857742
• gnomAD v3: 2-31529443-AC-A
• gnomAD v4: 2-31529443-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31529444del , CM000664.2:g.31529444del	GRCh38
NC_000002.11:g.31754514del , CM000664.1:g.31754514del	GRCh37
NC_000002.10:g.31608018del	NCBI36
NG_008365.1:g.56528del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.561del MANE Select	ENSP00000477587.1:p.Tyr188MetfsTer?
ENST00000622030.1:c.561del	ENSP00000477587.1:p.Tyr188MetfsTer?
NM_000348.3:c.561del	NP_000339.2:p.Tyr188MetfsTer?
XM_011533069.1:c.339del	XP_011531371.1:p.Tyr114MetfsTer?
XM_011533070.1:c.306del	XP_011531372.1:p.Tyr103MetfsTer?
XM_011533071.1:c.306del	XP_011531373.1:p.Tyr103MetfsTer?
XM_011533072.1:c.306del	XP_011531374.1:p.Tyr103MetfsTer?
XM_011533069.2:c.339del	XP_011531371.1:p.Tyr114MetfsTer?
XM_011533072.2:c.306del	XP_011531374.1:p.Tyr103MetfsTer?
NM_000348.4:c.561del MANE Select	NP_000339.2:p.Tyr188MetfsTer?