Canonical Allele Identifier: CA3732593

Gene: CYP21A2

Linked Data

• dbSNP Id: rs749635628
• ExAC: 6:32008159 G / A
• MyVariant Identifiers: chr6:g.32008159G>A (hg19) ; chr6:g.32040382G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040382G>A , CM000668.2:g.32040382G>A	GRCh38
NC_000006.11:g.32008159G>A , CM000668.1:g.32008159G>A	GRCh37
NC_000006.10:g.32116138G>A	NCBI36
NG_007941.2:g.7075G>A
NG_008337.2:g.73993C>T
NG_007941.3:g.7078G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.940-24G>A MANE Select	ENSP00000496625.1:n.940-24G>A
ENST00000418967.6:c.940-24G>A	ENSP00000408860.2:n.940-24G>A
ENST00000435122.3:c.850-24G>A	ENSP00000415043.2:n.850-24G>A
ENST00000479074.5:n.998-24G>A
ENST00000479730.5:n.1056-24G>A
ENST00000483041.5:n.1109-24G>A
ENST00000486063.5:n.919-24G>A
NM_000500.7:c.940-24G>A	NP_000491.4:n.940-24G>A
NM_001128590.3:c.850-24G>A	NP_001122062.3:n.850-24G>A
XM_011514314.1:c.535-24G>A	XP_011512616.1:n.535-24G>A
NM_000500.9:c.940-24G>A MANE Select	NP_000491.4:n.940-24G>A
NM_001368143.1:c.535-24G>A	NP_001355072.1:n.535-24G>A
NM_001368144.1:c.535-24G>A	NP_001355073.1:n.535-24G>A
NM_001128590.4:c.850-24G>A	NP_001122062.3:n.850-24G>A
NM_001368143.2:c.535-24G>A	NP_001355072.1:n.535-24G>A
NM_001368144.2:c.535-24G>A	NP_001355073.1:n.535-24G>A