Canonical Allele Identifier: CA363498942

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32038522-G-T
• MyVariant Identifiers: chr6:g.32006299G>T (hg19) ; chr6:g.32038522G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038522G>T , CM000668.2:g.32038522G>T	GRCh38
NC_000006.11:g.32006299G>T , CM000668.1:g.32006299G>T	GRCh37
NC_000006.10:g.32114278G>T	NCBI36
NG_007941.2:g.5215G>T
NG_007941.3:g.5218G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.100G>T MANE Select	ENSP00000496625.1:p.Ala34Ser
ENST00000418967.6:c.100G>T	ENSP00000408860.2:p.Ala34Ser
ENST00000435122.3:c.100G>T	ENSP00000415043.2:p.Ala34Ser
ENST00000466779.5:c.100G>T	ENSP00000417321.1:p.Ala34Ser
ENST00000469053.5:c.100G>T	ENSP00000418104.1:p.Ala34Ser
ENST00000471671.4:c.100G>T	ENSP00000418561.1:p.Ala34Ser
ENST00000478281.5:c.100G>T	ENSP00000419572.1:p.Ala34Ser
ENST00000479074.5:n.158G>T
ENST00000479730.5:n.158G>T
ENST00000480027.1:n.153G>T
ENST00000483041.5:n.153G>T
ENST00000486063.5:n.183G>T
ENST00000488465.1:n.108G>T
NM_000500.7:c.100G>T	NP_000491.4:p.Ala34Ser
NM_001128590.3:c.100G>T	NP_001122062.3:p.Ala34Ser
XM_011514314.1:c.-325G>T	XP_011512616.1:n.-325G>T
NM_000500.9:c.100G>T MANE Select	NP_000491.4:p.Ala34Ser
NM_001368143.1:c.-325G>T	NP_001355072.1:n.-325G>T
NM_001368144.1:c.-235G>T	NP_001355073.1:n.-235G>T
NM_001128590.4:c.100G>T	NP_001122062.3:p.Ala34Ser
NM_001368143.2:c.-325G>T	NP_001355072.1:n.-325G>T
NM_001368144.2:c.-235G>T	NP_001355073.1:n.-235G>T