Canonical Allele Identifier: CA566693870

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1163058764
• gnomAD v2: 6-32008632-C-T
• gnomAD v4: 6-32040855-C-T
• MyVariant Identifiers: chr6:g.32008632C>T (hg19) ; chr6:g.32040855C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040855C>T , CM000668.2:g.32040855C>T	GRCh38
NC_000006.11:g.32008632C>T , CM000668.1:g.32008632C>T	GRCh37
NC_000006.10:g.32116611C>T	NCBI36
NG_007941.2:g.7548C>T
NG_008337.2:g.73520G>A
NG_007941.3:g.7551C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.1223-14C>T MANE Select	ENSP00000496625.1:n.1223-14C>T
ENST00000418967.6:c.1223-14C>T	ENSP00000408860.2:n.1223-14C>T
ENST00000435122.3:c.1133-14C>T	ENSP00000415043.2:n.1133-14C>T
ENST00000479074.5:n.1364-14C>T
ENST00000479730.5:n.1339-14C>T
ENST00000483041.5:n.1392-14C>T
ENST00000486063.5:n.1202-14C>T
NM_000500.7:c.1223-14C>T	NP_000491.4:n.1223-14C>T
NM_001128590.3:c.1133-14C>T	NP_001122062.3:n.1133-14C>T
XM_011514314.1:c.818-14C>T	XP_011512616.1:n.818-14C>T
NM_000500.9:c.1223-14C>T MANE Select	NP_000491.4:n.1223-14C>T
NM_001368143.1:c.818-14C>T	NP_001355072.1:n.818-14C>T
NM_001368144.1:c.818-14C>T	NP_001355073.1:n.818-14C>T
NM_001128590.4:c.1133-14C>T	NP_001122062.3:n.1133-14C>T
NM_001368143.2:c.818-14C>T	NP_001355072.1:n.818-14C>T
NM_001368144.2:c.818-14C>T	NP_001355073.1:n.818-14C>T