Canonical Allele Identifier: CA4573853
Gene: ASB10 HGNC NCBI

Linked Data

ClinVar Variation Id: 2888094
ClinVar RCV Id: RCV003724689
dbSNP Id: rs191851268
ExAC: 7:150883492 G / T
gnomAD v2: 7-150883492-G-T
gnomAD v3: 7-151186405-G-T
gnomAD v4: 7-151186405-G-T
MyVariant Identifiers: chr7:g.150883492G>T (hg19) chr7:g.150883492_150883493delinsTC (hg19) chr7:g.151186405G>T (hg38) chr7:g.151186405_151186406delinsTC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.151186405G>T , CM000669.2:g.151186405G>T GRCh38
NC_000007.13:g.150883492G>T , CM000669.1:g.150883492G>T GRCh37
NC_000007.12:g.150514425G>T NCBI36
NG_017016.1:g.6428C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000420175.3:c.571C>A MANE Select ENSP00000391137.2:p.Pro191Thr
ENST00000275838.5:c.571C>A ENSP00000275838.1:p.Pro191Thr
ENST00000377867.7:c.526C>A ENSP00000367098.3:p.Pro176Thr
ENST00000420175.2:c.571C>A ENSP00000391137.2:p.Pro191Thr
NM_001142459.1:c.571C>A NP_001135931.2:p.Pro191Thr
NM_001142460.1:c.571C>A NP_001135932.2:p.Pro191Thr
NM_080871.3:c.526C>A NP_543147.2:p.Pro176Thr
XM_005249949.3:c.706C>A XP_005250006.1:p.Pro236Thr
NM_001142459.2:c.571C>A MANE Select NP_001135931.2:p.Pro191Thr
NM_080871.4:c.526C>A NP_543147.2:p.Pro176Thr
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