Canonical Allele Identifier: CA150530
Gene: ASB10 HGNC NCBI

Linked Data

ClinVar Variation Id: 99976
ClinVar RCV Id: RCV000086426 RCV002225288
dbSNP Id: rs147737381
ExAC: 7:150883937 C / T
gnomAD v2: 7-150883937-C-T
gnomAD v3: 7-151186850-C-T
gnomAD v4: 7-151186850-C-T
COSMIC: COSM1488376 COSM1488377 COSM3636359
MyVariant Identifiers: chr7:g.150883937C>T (hg19) chr7:g.151186850C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.151186850C>T , CM000669.2:g.151186850C>T GRCh38
NC_000007.13:g.150883937C>T , CM000669.1:g.150883937C>T GRCh37
NC_000007.12:g.150514870C>T NCBI36
NG_017016.1:g.5983G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000420175.3:c.281G>A MANE Select ENSP00000391137.2:p.Arg94Gln
ENST00000275838.5:c.281G>A ENSP00000275838.1:p.Arg94Gln
ENST00000377867.7:c.272-191G>A ENSP00000367098.3:n.272-191G>A
ENST00000415615.1:c.*325G>A ENSP00000410871.1:n.*325G>A
ENST00000420175.2:c.281G>A ENSP00000391137.2:p.Arg94Gln
NM_001142459.1:c.281G>A NP_001135931.2:p.Arg94Gln
NM_001142460.1:c.281G>A NP_001135932.2:p.Arg94Gln
NM_080871.3:c.272-191G>A NP_543147.2:n.272-191G>A
XM_005249949.3:c.416G>A XP_005250006.1:p.Arg139Gln
NM_001142459.2:c.281G>A MANE Select NP_001135931.2:p.Arg94Gln
NM_080871.4:c.272-191G>A NP_543147.2:n.272-191G>A
Search 100 bp 5'
Search 100 bp 3'