Canonical Allele Identifier: CA363502644

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32039375-G-T
• MyVariant Identifiers: chr6:g.32007152G>T (hg19) ; chr6:g.32039375G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039375G>T , CM000668.2:g.32039375G>T	GRCh38
NC_000006.11:g.32007152G>T , CM000668.1:g.32007152G>T	GRCh37
NC_000006.10:g.32115131G>T	NCBI36
NG_007941.2:g.6068G>T
NG_008337.2:g.75000C>A
NG_007941.3:g.6071G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.467G>T MANE Select	ENSP00000496625.1:p.Gly156Val
ENST00000418967.6:c.467G>T	ENSP00000408860.2:p.Gly156Val
ENST00000435122.3:c.377G>T	ENSP00000415043.2:p.Gly126Val
ENST00000462278.1:n.55G>T
ENST00000464325.5:n.388G>T
ENST00000466779.5:c.*159G>T	ENSP00000417321.1:n.*159G>T
ENST00000466879.5:n.518G>T
ENST00000469053.5:c.*159G>T	ENSP00000418104.1:n.*159G>T
ENST00000471671.4:c.467G>T	ENSP00000418561.1:p.Gly156Val
ENST00000478281.5:c.500G>T	ENSP00000419572.1:p.Gly167Val
ENST00000479074.5:n.525G>T
ENST00000479730.5:n.622G>T
ENST00000483041.5:n.636G>T
ENST00000486063.5:n.647G>T
ENST00000488465.1:n.475G>T
NM_000500.7:c.467G>T	NP_000491.4:p.Gly156Val
NM_001128590.3:c.377G>T	NP_001122062.3:p.Gly126Val
XM_011514314.1:c.62G>T	XP_011512616.1:p.Gly21Val
NM_000500.9:c.467G>T MANE Select	NP_000491.4:p.Gly156Val
NM_001368143.1:c.62G>T	NP_001355072.1:p.Gly21Val
NM_001368144.1:c.62G>T	NP_001355073.1:p.Gly21Val
NM_001128590.4:c.377G>T	NP_001122062.3:p.Gly126Val
NM_001368143.2:c.62G>T	NP_001355072.1:p.Gly21Val
NM_001368144.2:c.62G>T	NP_001355073.1:p.Gly21Val