Canonical Allele Identifier: CA363502501

Gene: CYP21A2

Linked Data

• dbSNP Id: rs769769128
• gnomAD v2: 6-32007136-A-C
• gnomAD v3: 6-32039359-A-C
• gnomAD v4: 6-32039359-A-C
• MyVariant Identifiers: chr6:g.32007136A>C (hg19) ; chr6:g.32039359A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039359A>C , CM000668.2:g.32039359A>C	GRCh38
NC_000006.11:g.32007136A>C , CM000668.1:g.32007136A>C	GRCh37
NC_000006.10:g.32115115A>C	NCBI36
NG_007941.2:g.6052A>C
NG_008337.2:g.75016T>G
NG_007941.3:g.6055A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.451A>C MANE Select	ENSP00000496625.1:p.Met151Leu
ENST00000418967.6:c.451A>C	ENSP00000408860.2:p.Met151Leu
ENST00000435122.3:c.361A>C	ENSP00000415043.2:p.Met121Leu
ENST00000462278.1:n.39A>C
ENST00000464325.5:n.372A>C
ENST00000466779.5:c.*143A>C	ENSP00000417321.1:n.*143A>C
ENST00000466879.5:n.502A>C
ENST00000469053.5:c.*143A>C	ENSP00000418104.1:n.*143A>C
ENST00000471671.4:c.451A>C	ENSP00000418561.1:p.Met151Leu
ENST00000478281.5:c.484A>C	ENSP00000419572.1:p.Met162Leu
ENST00000479074.5:n.509A>C
ENST00000479730.5:n.606A>C
ENST00000483041.5:n.620A>C
ENST00000486063.5:n.631A>C
ENST00000488465.1:n.459A>C
NM_000500.7:c.451A>C	NP_000491.4:p.Met151Leu
NM_001128590.3:c.361A>C	NP_001122062.3:p.Met121Leu
XM_011514314.1:c.46A>C	XP_011512616.1:p.Met16Leu
NM_000500.9:c.451A>C MANE Select	NP_000491.4:p.Met151Leu
NM_001368143.1:c.46A>C	NP_001355072.1:p.Met16Leu
NM_001368144.1:c.46A>C	NP_001355073.1:p.Met16Leu
NM_001128590.4:c.361A>C	NP_001122062.3:p.Met121Leu
NM_001368143.2:c.46A>C	NP_001355072.1:p.Met16Leu
NM_001368144.2:c.46A>C	NP_001355073.1:p.Met16Leu