Canonical Allele Identifier: CA363511222

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32008449T>G (hg19) ; chr6:g.32040672T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040672T>G , CM000668.2:g.32040672T>G	GRCh38
NC_000006.11:g.32008449T>G , CM000668.1:g.32008449T>G	GRCh37
NC_000006.10:g.32116428T>G	NCBI36
NG_007941.2:g.7365T>G
NG_008337.2:g.73703A>C
NG_007941.3:g.7368T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1123T>G MANE Select	ENSP00000496625.1:p.Ser375Ala
ENST00000418967.6:c.1123T>G	ENSP00000408860.2:p.Ser375Ala
ENST00000435122.3:c.1033T>G	ENSP00000415043.2:p.Ser345Ala
ENST00000479074.5:n.1264T>G
ENST00000479730.5:n.1239T>G
ENST00000483041.5:n.1292T>G
ENST00000486063.5:n.1102T>G
NM_000500.7:c.1123T>G	NP_000491.4:p.Ser375Ala
NM_001128590.3:c.1033T>G	NP_001122062.3:p.Ser345Ala
XM_011514314.1:c.718T>G	XP_011512616.1:p.Ser240Ala
NM_000500.9:c.1123T>G MANE Select	NP_000491.4:p.Ser375Ala
NM_001368143.1:c.718T>G	NP_001355072.1:p.Ser240Ala
NM_001368144.1:c.718T>G	NP_001355073.1:p.Ser240Ala
NM_001128590.4:c.1033T>G	NP_001122062.3:p.Ser345Ala
NM_001368143.2:c.718T>G	NP_001355072.1:p.Ser240Ala
NM_001368144.2:c.718T>G	NP_001355073.1:p.Ser240Ala