Canonical Allele Identifier: CA3732695

Gene: CYP21A2

Linked Data

• dbSNP Id: rs760920269
• ExAC: 6:32008594 G / C
• gnomAD v2: 6-32008594-G-C
• gnomAD v4: 6-32040817-G-C
• MyVariant Identifiers: chr6:g.32008594G>C (hg19) ; chr6:g.32040817G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040817G>C , CM000668.2:g.32040817G>C	GRCh38
NC_000006.11:g.32008594G>C , CM000668.1:g.32008594G>C	GRCh37
NC_000006.10:g.32116573G>C	NCBI36
NG_007941.2:g.7510G>C
NG_008337.2:g.73558C>G
NG_007941.3:g.7513G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1222+46G>C MANE Select	ENSP00000496625.1:n.1222+46G>C
ENST00000418967.6:c.1222+46G>C	ENSP00000408860.2:n.1222+46G>C
ENST00000435122.3:c.1132+46G>C	ENSP00000415043.2:n.1132+46G>C
ENST00000479074.5:n.1363+46G>C
ENST00000479730.5:n.1338+46G>C
ENST00000483041.5:n.1391+46G>C
ENST00000486063.5:n.1201+46G>C
NM_000500.7:c.1222+46G>C	NP_000491.4:n.1222+46G>C
NM_001128590.3:c.1132+46G>C	NP_001122062.3:n.1132+46G>C
XM_011514314.1:c.817+46G>C	XP_011512616.1:n.817+46G>C
NM_000500.9:c.1222+46G>C MANE Select	NP_000491.4:n.1222+46G>C
NM_001368143.1:c.817+46G>C	NP_001355072.1:n.817+46G>C
NM_001368144.1:c.817+46G>C	NP_001355073.1:n.817+46G>C
NM_001128590.4:c.1132+46G>C	NP_001122062.3:n.1132+46G>C
NM_001368143.2:c.817+46G>C	NP_001355072.1:n.817+46G>C
NM_001368144.2:c.817+46G>C	NP_001355073.1:n.817+46G>C