Canonical Allele Identifier: CA3732580

Gene: CYP21A2

Linked Data

• dbSNP Id: rs759398534
• ExAC: 6:32008000 G / C
• gnomAD v2: 6-32008000-G-C
• gnomAD v4: 6-32040223-G-C
• MyVariant Identifiers: chr6:g.32008000G>C (hg19) ; chr6:g.32040223G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040223G>C , CM000668.2:g.32040223G>C	GRCh38
NC_000006.11:g.32008000G>C , CM000668.1:g.32008000G>C	GRCh37
NC_000006.10:g.32115979G>C	NCBI36
NG_007941.2:g.6916G>C
NG_008337.2:g.74152C>G
NG_007941.3:g.6919G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.939+18G>C MANE Select	ENSP00000496625.1:n.939+18G>C
ENST00000418967.6:c.939+18G>C	ENSP00000408860.2:n.939+18G>C
ENST00000435122.3:c.849+18G>C	ENSP00000415043.2:n.849+18G>C
ENST00000479074.5:n.997+18G>C
ENST00000479730.5:n.1055+18G>C
ENST00000483041.5:n.1108+18G>C
ENST00000486063.5:n.919-183G>C
NM_000500.7:c.939+18G>C	NP_000491.4:n.939+18G>C
NM_001128590.3:c.849+18G>C	NP_001122062.3:n.849+18G>C
XM_011514314.1:c.534+18G>C	XP_011512616.1:n.534+18G>C
NM_000500.9:c.939+18G>C MANE Select	NP_000491.4:n.939+18G>C
NM_001368143.1:c.534+18G>C	NP_001355072.1:n.534+18G>C
NM_001368144.1:c.534+18G>C	NP_001355073.1:n.534+18G>C
NM_001128590.4:c.849+18G>C	NP_001122062.3:n.849+18G>C
NM_001368143.2:c.534+18G>C	NP_001355072.1:n.534+18G>C
NM_001368144.2:c.534+18G>C	NP_001355073.1:n.534+18G>C