Canonical Allele Identifier: CA515669208
Gene: CYBB HGNC NCBI

Linked Data

gnomAD v4: X-37783570-T-C
MyVariant Identifiers: chrX:g.37642823T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37783570T>C , CM000685.2:g.37783570T>C GRCh38
NC_000023.10:g.37642823T>C , CM000685.1:g.37642823T>C GRCh37
NC_000023.9:g.37527767T>C NCBI36
NG_009065.1:g.8554T>C , LRG_53:g.8554T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.222T>C ENSP00000512461.1:p.Asn74=
ENST00000696171.1:c.126T>C ENSP00000512462.1:p.Asn42=
ENST00000696172.1:c.222T>C ENSP00000512463.1:p.Asn74=
ENST00000696173.1:n.230T>C
ENST00000378588.5:c.222T>C MANE Select ENSP00000367851.4:p.Asn74=
ENST00000378588.4:c.222T>C ENSP00000367851.4:p.Asn74=
ENST00000465127.1:c.171+357570T>C ENSP00000417050.1:n.171+357570T>C
NM_000397.3:c.222T>C , LRG_53t1:c.222T>C NP_000388.2:p.Asn74=
XM_011543890.1:c.-209T>C XP_011542192.1:n.-209T>C
NM_000397.4:c.222T>C MANE Select NP_000388.2:p.Asn74=