Canonical Allele Identifier: CA363499418

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32038600-T-C
• MyVariant Identifiers: chr6:g.32006377T>C (hg19) ; chr6:g.32038600T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038600T>C , CM000668.2:g.32038600T>C	GRCh38
NC_000006.11:g.32006377T>C , CM000668.1:g.32006377T>C	GRCh37
NC_000006.10:g.32114356T>C	NCBI36
NG_007941.2:g.5293T>C
NG_007941.3:g.5296T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.178T>C MANE Select	ENSP00000496625.1:p.Tyr60His
ENST00000418967.6:c.178T>C	ENSP00000408860.2:p.Tyr60His
ENST00000435122.3:c.178T>C	ENSP00000415043.2:p.Tyr60His
ENST00000464325.5:n.18T>C
ENST00000466779.5:c.178T>C	ENSP00000417321.1:p.Tyr60His
ENST00000469053.5:c.178T>C	ENSP00000418104.1:p.Tyr60His
ENST00000471671.4:c.178T>C	ENSP00000418561.1:p.Tyr60His
ENST00000478281.5:c.178T>C	ENSP00000419572.1:p.Tyr60His
ENST00000479074.5:n.236T>C
ENST00000479730.5:n.236T>C
ENST00000480027.1:n.231T>C
ENST00000483041.5:n.231T>C
ENST00000486063.5:n.261T>C
ENST00000488465.1:n.186T>C
NM_000500.7:c.178T>C	NP_000491.4:p.Tyr60His
NM_001128590.3:c.178T>C	NP_001122062.3:p.Tyr60His
XM_011514314.1:c.-247T>C	XP_011512616.1:n.-247T>C
NM_000500.9:c.178T>C MANE Select	NP_000491.4:p.Tyr60His
NM_001368143.1:c.-247T>C	NP_001355072.1:n.-247T>C
NM_001368144.1:c.-157T>C	NP_001355073.1:n.-157T>C
NM_001128590.4:c.178T>C	NP_001122062.3:p.Tyr60His
NM_001368143.2:c.-247T>C	NP_001355072.1:n.-247T>C
NM_001368144.2:c.-157T>C	NP_001355073.1:n.-157T>C