Canonical Allele Identifier: CA356956491

Gene: SRD5A3

Linked Data

• ClinVar Variation Id: 903282
• ClinVar RCV Id: RCV001150489 ; RCV002483885
• dbSNP Id: rs548088851
• gnomAD v2: 4-56212505-T-C
• gnomAD v3: 4-55346338-T-C
• gnomAD v4: 4-55346338-T-C
• MyVariant Identifiers: chr4:g.56212505T>C (hg19) ; chr4:g.55346338T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55346338T>C , CM000666.2:g.55346338T>C	GRCh38
NC_000004.11:g.56212505T>C , CM000666.1:g.56212505T>C	GRCh37
NC_000004.10:g.55907262T>C	NCBI36
NG_028230.1:g.5118T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264228.9:c.2T>C MANE Select	ENSP00000264228.4:p.Met1Thr
ENST00000679351.1:c.2T>C	ENSP00000505676.1:p.Met1Thr
ENST00000679707.1:c.2T>C	ENSP00000505713.1:p.Met1Thr
ENST00000679836.1:c.2T>C	ENSP00000506601.1:p.Met1Thr
ENST00000680700.1:c.2T>C	ENSP00000504926.1:p.Met1Thr
ENST00000264228.8:c.2T>C	ENSP00000264228.4:p.Met1Thr
NM_024592.4:c.2T>C	NP_078868.1:p.Met1Thr
XM_005265766.2:c.2T>C	XP_005265823.1:p.Met1Thr
XM_005265767.2:c.2T>C	XP_005265824.1:p.Met1Thr
XM_005265766.4:c.2T>C	XP_005265823.1:p.Met1Thr
XM_005265767.3:c.2T>C	XP_005265824.1:p.Met1Thr
NM_024592.5:c.2T>C MANE Select	NP_078868.1:p.Met1Thr