Canonical Allele Identifier: CA515669215
Gene: CYBB HGNC NCBI

Linked Data

ClinVar Variation Id: 2107557
ClinVar RCV Id: RCV003029263
MyVariant Identifiers: chrX:g.37642829G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37783576G>C , CM000685.2:g.37783576G>C GRCh38
NC_000023.10:g.37642829G>C , CM000685.1:g.37642829G>C GRCh37
NC_000023.9:g.37527773G>C NCBI36
NG_009065.1:g.8560G>C , LRG_53:g.8560G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.228G>C ENSP00000512461.1:p.Leu76=
ENST00000696171.1:c.132G>C ENSP00000512462.1:p.Leu44=
ENST00000696172.1:c.228G>C ENSP00000512463.1:p.Leu76=
ENST00000696173.1:n.236G>C
ENST00000378588.5:c.228G>C MANE Select ENSP00000367851.4:p.Leu76=
ENST00000378588.4:c.228G>C ENSP00000367851.4:p.Leu76=
ENST00000465127.1:c.171+357576G>C ENSP00000417050.1:n.171+357576G>C
NM_000397.3:c.228G>C , LRG_53t1:c.228G>C NP_000388.2:p.Leu76=
XM_011543890.1:c.-203G>C XP_011542192.1:n.-203G>C
NM_000397.4:c.228G>C MANE Select NP_000388.2:p.Leu76=