Canonical Allele Identifier: CA8998536
Gene: CYB5A HGNC NCBI

Linked Data

ClinVar Variation Id: 252595
ClinVar RCV Id: RCV000239143 RCV002518515
dbSNP Id: rs75160992
ExAC: 18:71959098 A / C
gnomAD v2: 18-71959098-A-C
gnomAD v3: 18-74291863-A-C
gnomAD v4: 18-74291863-A-C
MyVariant Identifiers: chr18:g.71959098A>C (hg19) chr18:g.74291863A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.74291863A>C , CM000680.2:g.74291863A>C GRCh38
NC_000018.9:g.71959098A>C , CM000680.1:g.71959098A>C GRCh37
NC_000018.8:g.70110078A>C NCBI36
NG_023211.1:g.5124T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000340533.9:c.13T>G MANE Select ENSP00000341625.4:p.Ser5Ala
ENST00000340533.8:c.13T>G ENSP00000341625.4:p.Ser5Ala
ENST00000397914.4:c.13T>G ENSP00000381011.4:p.Ser5Ala
ENST00000494131.6:c.13T>G ENSP00000436461.2:p.Ser5Ala
ENST00000583418.1:n.95T>G
NM_001190807.2:c.13T>G NP_001177736.1:p.Ser5Ala
NM_001914.3:c.13T>G NP_001905.1:p.Ser5Ala
NM_148923.3:c.13T>G NP_683725.1:p.Ser5Ala
XM_011525835.1:c.13T>G XP_011524137.1:p.Ser5Ala
XM_011525835.2:c.13T>G XP_011524137.1:p.Ser5Ala
NM_148923.4:c.13T>G MANE Select NP_683725.1:p.Ser5Ala
NM_001190807.3:c.13T>G NP_001177736.1:p.Ser5Ala
NM_001914.4:c.13T>G NP_001905.1:p.Ser5Ala
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