Canonical Allele Identifier: CA539024345

Gene: CYP20A1

Linked Data

• dbSNP Id: rs977577062
• gnomAD v2: 2-204165035-T-C
• gnomAD v3: 2-203300312-T-C
• gnomAD v4: 2-203300312-T-C
• MyVariant Identifiers: chr2:g.204165035T>C (hg19) ; chr2:g.203300312T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.203300312T>C , CM000664.2:g.203300312T>C	GRCh38
NC_000002.11:g.204165035T>C , CM000664.1:g.204165035T>C	GRCh37
NC_000002.10:g.203873280T>C	NCBI36
NG_007956.1:g.66872T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356079.9:c.*3404T>C MANE Select	ENSP00000348380.4:n.*3404T>C
ENST00000611416.4:c.*3404T>C	ENSP00000477866.1:n.*3404T>C
ENST00000613925.4:c.*380+3024T>C	ENSP00000482757.1:n.*380+3024T>C
NM_177538.2:c.*3404T>C	NP_803882.1:n.*3404T>C
NM_001371695.1:c.*3404T>C	NP_001358624.1:n.*3404T>C
NM_001371696.1:c.*3404T>C	NP_001358625.1:n.*3404T>C
NM_001371697.1:c.*3404T>C	NP_001358626.1:n.*3404T>C
NM_001371698.1:c.*3404T>C	NP_001358627.1:n.*3404T>C
NM_001371699.1:c.*3404T>C	NP_001358628.1:n.*3404T>C
NM_001371700.1:c.*3404T>C	NP_001358629.1:n.*3404T>C
NM_001371701.1:c.*3404T>C	NP_001358630.1:n.*3404T>C
NM_001371702.1:c.*3404T>C	NP_001358631.1:n.*3404T>C
NM_001371703.1:c.*3404T>C	NP_001358632.1:n.*3404T>C
NM_001371704.1:c.*3404T>C	NP_001358633.1:n.*3404T>C
NM_001371705.1:c.*3404T>C	NP_001358634.1:n.*3404T>C
NM_001371706.1:c.*3404T>C	NP_001358635.1:n.*3404T>C
NM_177538.3:c.*3404T>C MANE Select	NP_803882.1:n.*3404T>C
NR_163981.1:n.4717T>C
NR_163982.1:n.4638T>C
NR_163983.1:n.4421T>C
NR_163984.1:n.4480T>C
NR_163985.1:n.4726T>C