Canonical Allele Identifier: CA449818613

Gene: CYP21A2

Linked Data

• dbSNP Id: rs553502993
• gnomAD v2: 6-32007159-T-C
• gnomAD v4: 6-32039382-T-C
• MyVariant Identifiers: chr6:g.32007159T>C (hg19) ; chr6:g.32039382T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039382T>C , CM000668.2:g.32039382T>C	GRCh38
NC_000006.11:g.32007159T>C , CM000668.1:g.32007159T>C	GRCh37
NC_000006.10:g.32115138T>C	NCBI36
NG_007941.2:g.6075T>C
NG_008337.2:g.74993A>G
NG_007941.3:g.6078T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.474T>C MANE Select	ENSP00000496625.1:p.Pro158=
ENST00000418967.6:c.474T>C	ENSP00000408860.2:p.Pro158=
ENST00000435122.3:c.384T>C	ENSP00000415043.2:p.Pro128=
ENST00000462278.1:n.62T>C
ENST00000464325.5:n.395T>C
ENST00000466779.5:c.*166T>C	ENSP00000417321.1:n.*166T>C
ENST00000466879.5:n.525T>C
ENST00000469053.5:c.*166T>C	ENSP00000418104.1:n.*166T>C
ENST00000471671.4:c.474T>C	ENSP00000418561.1:p.Pro158=
ENST00000478281.5:c.507T>C	ENSP00000419572.1:p.Pro169=
ENST00000479074.5:n.532T>C
ENST00000479730.5:n.629T>C
ENST00000483041.5:n.643T>C
ENST00000486063.5:n.654T>C
ENST00000488465.1:n.482T>C
NM_000500.7:c.474T>C	NP_000491.4:p.Pro158=
NM_001128590.3:c.384T>C	NP_001122062.3:p.Pro128=
XM_011514314.1:c.69T>C	XP_011512616.1:p.Pro23=
NM_000500.9:c.474T>C MANE Select	NP_000491.4:p.Pro158=
NM_001368143.1:c.69T>C	NP_001355072.1:p.Pro23=
NM_001368144.1:c.69T>C	NP_001355073.1:p.Pro23=
NM_001128590.4:c.384T>C	NP_001122062.3:p.Pro128=
NM_001368143.2:c.69T>C	NP_001355072.1:p.Pro23=
NM_001368144.2:c.69T>C	NP_001355073.1:p.Pro23=