Canonical Allele Identifier: CA1087498911

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1776157761
• gnomAD v3: 6-32039891-C-T
• gnomAD v4: 6-32039891-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039891C>T , CM000668.2:g.32039891C>T	GRCh38
NC_000006.11:g.32007668C>T , CM000668.1:g.32007668C>T	GRCh37
NC_000006.10:g.32115647C>T	NCBI36
NG_007941.2:g.6584C>T
NG_008337.2:g.74484G>A
NG_007941.3:g.6587C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.738+56C>T MANE Select	ENSP00000496625.1:n.738+56C>T
ENST00000418967.6:c.738+56C>T	ENSP00000408860.2:n.738+56C>T
ENST00000435122.3:c.648+56C>T	ENSP00000415043.2:n.648+56C>T
ENST00000462278.1:n.483C>T
ENST00000479074.5:n.796+56C>T
ENST00000479730.5:n.854+56C>T
ENST00000483041.5:n.907+56C>T
ENST00000486063.5:n.918+56C>T
NM_000500.7:c.738+56C>T	NP_000491.4:n.738+56C>T
NM_001128590.3:c.648+56C>T	NP_001122062.3:n.648+56C>T
XM_011514314.1:c.333+56C>T	XP_011512616.1:n.333+56C>T
NM_000500.9:c.738+56C>T MANE Select	NP_000491.4:n.738+56C>T
NM_001368143.1:c.333+56C>T	NP_001355072.1:n.333+56C>T
NM_001368144.1:c.333+56C>T	NP_001355073.1:n.333+56C>T
NM_001128590.4:c.648+56C>T	NP_001122062.3:n.648+56C>T
NM_001368143.2:c.333+56C>T	NP_001355072.1:n.333+56C>T
NM_001368144.2:c.333+56C>T	NP_001355073.1:n.333+56C>T