Canonical Allele Identifier: CA4573899
Gene: ASB10 HGNC NCBI

Linked Data

ClinVar Variation Id: 727784
ClinVar RCV Id: RCV000902176
dbSNP Id: rs201535252
ExAC: 7:150883671 A / G
gnomAD v2: 7-150883671-A-G
gnomAD v3: 7-151186584-A-G
gnomAD v4: 7-151186584-A-G
MyVariant Identifiers: chr7:g.150883671A>G (hg19) chr7:g.151186584A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.151186584A>G , CM000669.2:g.151186584A>G GRCh38
NC_000007.13:g.150883671A>G , CM000669.1:g.150883671A>G GRCh37
NC_000007.12:g.150514604A>G NCBI36
NG_017016.1:g.6249T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000420175.3:c.392T>C MANE Select ENSP00000391137.2:p.Val131Ala
ENST00000275838.5:c.392T>C ENSP00000275838.1:p.Val131Ala
ENST00000377867.7:c.347T>C ENSP00000367098.3:p.Val116Ala
ENST00000420175.2:c.392T>C ENSP00000391137.2:p.Val131Ala
NM_001142459.1:c.392T>C NP_001135931.2:p.Val131Ala
NM_001142460.1:c.392T>C NP_001135932.2:p.Val131Ala
NM_080871.3:c.347T>C NP_543147.2:p.Val116Ala
XM_005249949.3:c.527T>C XP_005250006.1:p.Val176Ala
NM_001142459.2:c.392T>C MANE Select NP_001135931.2:p.Val131Ala
NM_080871.4:c.347T>C NP_543147.2:p.Val116Ala
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