Canonical Allele Identifier: CA363507531

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1776193594
• gnomAD v4: 6-32040190-G-T
• MyVariant Identifiers: chr6:g.32007967G>T (hg19) ; chr6:g.32040190G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040190G>T , CM000668.2:g.32040190G>T	GRCh38
NC_000006.11:g.32007967G>T , CM000668.1:g.32007967G>T	GRCh37
NC_000006.10:g.32115946G>T	NCBI36
NG_007941.2:g.6883G>T
NG_008337.2:g.74185C>A
NG_007941.3:g.6886G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.924G>T MANE Select	ENSP00000496625.1:p.Leu308Phe
ENST00000418967.6:c.924G>T	ENSP00000408860.2:p.Leu308Phe
ENST00000435122.3:c.834G>T	ENSP00000415043.2:p.Leu278Phe
ENST00000479074.5:n.982G>T
ENST00000479730.5:n.1040G>T
ENST00000483041.5:n.1093G>T
ENST00000486063.5:n.919-216G>T
NM_000500.7:c.924G>T	NP_000491.4:p.Leu308Phe
NM_001128590.3:c.834G>T	NP_001122062.3:p.Leu278Phe
XM_011514314.1:c.519G>T	XP_011512616.1:p.Leu173Phe
NM_000500.9:c.924G>T MANE Select	NP_000491.4:p.Leu308Phe
NM_001368143.1:c.519G>T	NP_001355072.1:p.Leu173Phe
NM_001368144.1:c.519G>T	NP_001355073.1:p.Leu173Phe
NM_001128590.4:c.834G>T	NP_001122062.3:p.Leu278Phe
NM_001368143.2:c.519G>T	NP_001355072.1:p.Leu173Phe
NM_001368144.2:c.519G>T	NP_001355073.1:p.Leu173Phe