Canonical Allele Identifier: CA363500002

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32038784-T-C
• MyVariant Identifiers: chr6:g.32006561T>C (hg19) ; chr6:g.32038784T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038784T>C , CM000668.2:g.32038784T>C	GRCh38
NC_000006.11:g.32006561T>C , CM000668.1:g.32006561T>C	GRCh37
NC_000006.10:g.32114540T>C	NCBI36
NG_007941.2:g.5477T>C
NG_007941.3:g.5480T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.265T>C MANE Select	ENSP00000496625.1:p.Phe89Leu
ENST00000418967.6:c.265T>C	ENSP00000408860.2:p.Phe89Leu
ENST00000435122.3:c.202+160T>C	ENSP00000415043.2:n.202+160T>C
ENST00000464325.5:n.202T>C
ENST00000466779.5:c.265T>C	ENSP00000417321.1:p.Phe89Leu
ENST00000466879.5:n.34T>C
ENST00000469053.5:c.202+160T>C	ENSP00000418104.1:n.202+160T>C
ENST00000471671.4:c.265T>C	ENSP00000418561.1:p.Phe89Leu
ENST00000478281.5:c.265T>C	ENSP00000419572.1:p.Phe89Leu
ENST00000479074.5:n.323T>C
ENST00000479730.5:n.420T>C
ENST00000480027.1:n.318T>C
ENST00000483041.5:n.415T>C
ENST00000486063.5:n.445T>C
ENST00000488465.1:n.273T>C
NM_000500.7:c.265T>C	NP_000491.4:p.Phe89Leu
NM_001128590.3:c.202+160T>C	NP_001122062.3:n.202+160T>C
XM_011514314.1:c.-160T>C	XP_011512616.1:n.-160T>C
NM_000500.9:c.265T>C MANE Select	NP_000491.4:p.Phe89Leu
NM_001368143.1:c.-160T>C	NP_001355072.1:n.-160T>C
NM_001368144.1:c.-133+160T>C	NP_001355073.1:n.-133+160T>C
NM_001128590.4:c.202+160T>C	NP_001122062.3:n.202+160T>C
NM_001368143.2:c.-160T>C	NP_001355072.1:n.-160T>C
NM_001368144.2:c.-133+160T>C	NP_001355073.1:n.-133+160T>C