Canonical Allele Identifier: CA150466
Gene: ASB10 HGNC NCBI

Linked Data

ClinVar Variation Id: 99944
ClinVar RCV Id: RCV000086394 RCV000968118
dbSNP Id: rs104886489
ExAC: 7:150883994 G / T
gnomAD v2: 7-150883994-G-T
gnomAD v3: 7-151186907-G-T
gnomAD v4: 7-151186907-G-T
MyVariant Identifiers: chr7:g.150883994G>T (hg19) chr7:g.151186907G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.151186907G>T , CM000669.2:g.151186907G>T GRCh38
NC_000007.13:g.150883994G>T , CM000669.1:g.150883994G>T GRCh37
NC_000007.12:g.150514927G>T NCBI36
NG_017016.1:g.5926C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000420175.3:c.224C>A MANE Select ENSP00000391137.2:p.Ala75Glu
ENST00000275838.5:c.224C>A ENSP00000275838.1:p.Ala75Glu
ENST00000377867.7:c.272-248C>A ENSP00000367098.3:n.272-248C>A
ENST00000415615.1:c.*268C>A ENSP00000410871.1:n.*268C>A
ENST00000420175.2:c.224C>A ENSP00000391137.2:p.Ala75Glu
NM_001142459.1:c.224C>A NP_001135931.2:p.Ala75Glu
NM_001142460.1:c.224C>A NP_001135932.2:p.Ala75Glu
NM_080871.3:c.272-248C>A NP_543147.2:n.272-248C>A
XM_005249949.3:c.359C>A XP_005250006.1:p.Ala120Glu
NM_001142459.2:c.224C>A MANE Select NP_001135931.2:p.Ala75Glu
NM_080871.4:c.272-248C>A NP_543147.2:n.272-248C>A
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