Canonical Allele Identifier: CA363499517

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1776004620
• MyVariant Identifiers: chr6:g.32006393G>C (hg19) ; chr6:g.32038616G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038616G>C , CM000668.2:g.32038616G>C	GRCh38
NC_000006.11:g.32006393G>C , CM000668.1:g.32006393G>C	GRCh37
NC_000006.10:g.32114372G>C	NCBI36
NG_007941.2:g.5309G>C
NG_007941.3:g.5312G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.194G>C MANE Select	ENSP00000496625.1:p.Gly65Ala
ENST00000418967.6:c.194G>C	ENSP00000408860.2:p.Gly65Ala
ENST00000435122.3:c.194G>C	ENSP00000415043.2:p.Gly65Ala
ENST00000464325.5:n.34G>C
ENST00000466779.5:c.194G>C	ENSP00000417321.1:p.Gly65Ala
ENST00000469053.5:c.194G>C	ENSP00000418104.1:p.Gly65Ala
ENST00000471671.4:c.194G>C	ENSP00000418561.1:p.Gly65Ala
ENST00000478281.5:c.194G>C	ENSP00000419572.1:p.Gly65Ala
ENST00000479074.5:n.252G>C
ENST00000479730.5:n.252G>C
ENST00000480027.1:n.247G>C
ENST00000483041.5:n.247G>C
ENST00000486063.5:n.277G>C
ENST00000488465.1:n.202G>C
NM_000500.7:c.194G>C	NP_000491.4:p.Gly65Ala
NM_001128590.3:c.194G>C	NP_001122062.3:p.Gly65Ala
XM_011514314.1:c.-231G>C	XP_011512616.1:n.-231G>C
NM_000500.9:c.194G>C MANE Select	NP_000491.4:p.Gly65Ala
NM_001368143.1:c.-231G>C	NP_001355072.1:n.-231G>C
NM_001368144.1:c.-141G>C	NP_001355073.1:n.-141G>C
NM_001128590.4:c.194G>C	NP_001122062.3:p.Gly65Ala
NM_001368143.2:c.-231G>C	NP_001355072.1:n.-231G>C
NM_001368144.2:c.-141G>C	NP_001355073.1:n.-141G>C