Canonical Allele Identifier: CA2693425757
Gene: CYBB HGNC NCBI

Linked Data

gnomAD v4: X-37783715-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37783715A>C , CM000685.2:g.37783715A>C GRCh38
NC_000023.10:g.37642968A>C , CM000685.1:g.37642968A>C GRCh37
NC_000023.9:g.37527912A>C NCBI36
NG_009065.1:g.8699A>C , LRG_53:g.8699A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.252+115A>C ENSP00000512461.1:n.252+115A>C
ENST00000696171.1:c.156+115A>C ENSP00000512462.1:n.156+115A>C
ENST00000696172.1:c.252+115A>C ENSP00000512463.1:n.252+115A>C
ENST00000696173.1:n.260+115A>C
ENST00000378588.5:c.252+115A>C MANE Select ENSP00000367851.4:n.252+115A>C
ENST00000378588.4:c.252+115A>C ENSP00000367851.4:n.252+115A>C
ENST00000465127.1:c.171+357715A>C ENSP00000417050.1:n.171+357715A>C
NM_000397.3:c.252+115A>C , LRG_53t1:c.252+115A>C NP_000388.2:n.252+115A>C
XM_011543890.1:c.-179+115A>C XP_011542192.1:n.-179+115A>C
NM_000397.4:c.252+115A>C MANE Select NP_000388.2:n.252+115A>C
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