Canonical Allele Identifier: CA363505786

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32040014-G-C
• MyVariant Identifiers: chr6:g.32007791G>C (hg19) ; chr6:g.32040014G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040014G>C , CM000668.2:g.32040014G>C	GRCh38
NC_000006.11:g.32007791G>C , CM000668.1:g.32007791G>C	GRCh37
NC_000006.10:g.32115770G>C	NCBI36
NG_007941.2:g.6707G>C
NG_008337.2:g.74361C>G
NG_007941.3:g.6710G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.748G>C MANE Select	ENSP00000496625.1:p.Val250Leu
ENST00000418967.6:c.748G>C	ENSP00000408860.2:p.Val250Leu
ENST00000435122.3:c.658G>C	ENSP00000415043.2:p.Val220Leu
ENST00000479074.5:n.806G>C
ENST00000479730.5:n.864G>C
ENST00000483041.5:n.917G>C
ENST00000486063.5:n.918+179G>C
NM_000500.7:c.748G>C	NP_000491.4:p.Val250Leu
NM_001128590.3:c.658G>C	NP_001122062.3:p.Val220Leu
XM_011514314.1:c.343G>C	XP_011512616.1:p.Val115Leu
NM_000500.9:c.748G>C MANE Select	NP_000491.4:p.Val250Leu
NM_001368143.1:c.343G>C	NP_001355072.1:p.Val115Leu
NM_001368144.1:c.343G>C	NP_001355073.1:p.Val115Leu
NM_001128590.4:c.658G>C	NP_001122062.3:p.Val220Leu
NM_001368143.2:c.343G>C	NP_001355072.1:p.Val115Leu
NM_001368144.2:c.343G>C	NP_001355073.1:p.Val115Leu