Canonical Allele Identifier: CA566694953

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1319427448
• gnomAD v2: 6-32007054-G-C
• gnomAD v3: 6-32039277-G-C
• gnomAD v4: 6-32039277-G-C
• MyVariant Identifiers: chr6:g.32007054G>C (hg19) ; chr6:g.32039277G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039277G>C , CM000668.2:g.32039277G>C	GRCh38
NC_000006.11:g.32007054G>C , CM000668.1:g.32007054G>C	GRCh37
NC_000006.10:g.32115033G>C	NCBI36
NG_007941.2:g.5970G>C
NG_008337.2:g.75098C>G
NG_007941.3:g.5973G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.447+29G>C MANE Select	ENSP00000496625.1:n.447+29G>C
ENST00000418967.6:c.447+29G>C	ENSP00000408860.2:n.447+29G>C
ENST00000435122.3:c.357+29G>C	ENSP00000415043.2:n.357+29G>C
ENST00000462278.1:n.35+29G>C
ENST00000464325.5:n.368+29G>C
ENST00000466779.5:c.*139+29G>C	ENSP00000417321.1:n.*139+29G>C
ENST00000466879.5:n.498+29G>C
ENST00000469053.5:c.*139+29G>C	ENSP00000418104.1:n.*139+29G>C
ENST00000471671.4:c.447+29G>C	ENSP00000418561.1:n.447+29G>C
ENST00000478281.5:c.480+29G>C	ENSP00000419572.1:n.480+29G>C
ENST00000479074.5:n.505+29G>C
ENST00000479730.5:n.602+29G>C
ENST00000483041.5:n.616+29G>C
ENST00000486063.5:n.627+29G>C
ENST00000488465.1:n.455+29G>C
NM_000500.7:c.447+29G>C	NP_000491.4:n.447+29G>C
NM_001128590.3:c.357+29G>C	NP_001122062.3:n.357+29G>C
XM_011514314.1:c.42+29G>C	XP_011512616.1:n.42+29G>C
NM_000500.9:c.447+29G>C MANE Select	NP_000491.4:n.447+29G>C
NM_001368143.1:c.42+29G>C	NP_001355072.1:n.42+29G>C
NM_001368144.1:c.42+29G>C	NP_001355073.1:n.42+29G>C
NM_001128590.4:c.357+29G>C	NP_001122062.3:n.357+29G>C
NM_001368143.2:c.42+29G>C	NP_001355072.1:n.42+29G>C
NM_001368144.2:c.42+29G>C	NP_001355073.1:n.42+29G>C