Canonical Allele Identifier: CA4573859
Gene: ASB10 HGNC NCBI

Linked Data

ClinVar Variation Id: 3130083
ClinVar RCV Id: RCV004420498
dbSNP Id: rs766462847
ExAC: 7:150883534 C / T
gnomAD v2: 7-150883534-C-T
gnomAD v3: 7-151186447-C-T
gnomAD v4: 7-151186447-C-T
MyVariant Identifiers: chr7:g.150883534C>T (hg19) chr7:g.151186447C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.151186447C>T , CM000669.2:g.151186447C>T GRCh38
NC_000007.13:g.150883534C>T , CM000669.1:g.150883534C>T GRCh37
NC_000007.12:g.150514467C>T NCBI36
NG_017016.1:g.6386G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000420175.3:c.529G>A MANE Select ENSP00000391137.2:p.Ala177Thr
ENST00000275838.5:c.529G>A ENSP00000275838.1:p.Ala177Thr
ENST00000377867.7:c.484G>A ENSP00000367098.3:p.Ala162Thr
ENST00000420175.2:c.529G>A ENSP00000391137.2:p.Ala177Thr
NM_001142459.1:c.529G>A NP_001135931.2:p.Ala177Thr
NM_001142460.1:c.529G>A NP_001135932.2:p.Ala177Thr
NM_080871.3:c.484G>A NP_543147.2:p.Ala162Thr
XM_005249949.3:c.664G>A XP_005250006.1:p.Ala222Thr
NM_001142459.2:c.529G>A MANE Select NP_001135931.2:p.Ala177Thr
NM_080871.4:c.484G>A NP_543147.2:p.Ala162Thr
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