Canonical Allele Identifier: CA150496
Gene: ASB10 HGNC NCBI

Linked Data

ClinVar Variation Id: 99959
ClinVar RCV Id: RCV000086409 RCV002514531
dbSNP Id: rs104886473
ExAC: 7:150883498 G / A
gnomAD v2: 7-150883498-G-A
gnomAD v3: 7-151186411-G-A
gnomAD v4: 7-151186411-G-A
COSMIC: COSM1449306 COSM1449307
MyVariant Identifiers: chr7:g.150883498G>A (hg19) chr7:g.151186411G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.151186411G>A , CM000669.2:g.151186411G>A GRCh38
NC_000007.13:g.150883498G>A , CM000669.1:g.150883498G>A GRCh37
NC_000007.12:g.150514431G>A NCBI36
NG_017016.1:g.6422C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000420175.3:c.565C>T MANE Select ENSP00000391137.2:p.Arg189Trp
ENST00000275838.5:c.565C>T ENSP00000275838.1:p.Arg189Trp
ENST00000377867.7:c.520C>T ENSP00000367098.3:p.Arg174Trp
ENST00000420175.2:c.565C>T ENSP00000391137.2:p.Arg189Trp
NM_001142459.1:c.565C>T NP_001135931.2:p.Arg189Trp
NM_001142460.1:c.565C>T NP_001135932.2:p.Arg189Trp
NM_080871.3:c.520C>T NP_543147.2:p.Arg174Trp
XM_005249949.3:c.700C>T XP_005250006.1:p.Arg234Trp
NM_001142459.2:c.565C>T MANE Select NP_001135931.2:p.Arg189Trp
NM_080871.4:c.520C>T NP_543147.2:p.Arg174Trp
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