Canonical Allele Identifier: CA143897
Gene: ASB10 HGNC NCBI

Linked Data

ClinVar Variation Id: 50952
ClinVar RCV Id: RCV000043657
dbSNP Id: rs151344606
gnomAD v2: 7-150883499-G-T
gnomAD v4: 7-151186412-G-T
MyVariant Identifiers: chr7:g.150883499G>T (hg19) chr7:g.151186412G>T (hg38)
PubMed: PMID:22156576
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.151186412G>T , CM000669.2:g.151186412G>T GRCh38
NC_000007.13:g.150883499G>T , CM000669.1:g.150883499G>T GRCh37
NC_000007.12:g.150514432G>T NCBI36
NG_017016.1:g.6421C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000420175.3:c.564C>A MANE Select ENSP00000391137.2:p.Cys188Ter
ENST00000275838.5:c.564C>A ENSP00000275838.1:p.Cys188Ter
ENST00000377867.7:c.519C>A ENSP00000367098.3:p.Cys173Ter
ENST00000420175.2:c.564C>A ENSP00000391137.2:p.Cys188Ter
NM_001142459.1:c.564C>A NP_001135931.2:p.Cys188Ter
NM_001142460.1:c.564C>A NP_001135932.2:p.Cys188Ter
NM_080871.3:c.519C>A NP_543147.2:p.Cys173Ter
XM_005249949.3:c.699C>A XP_005250006.1:p.Cys233Ter
NM_001142459.2:c.564C>A MANE Select NP_001135931.2:p.Cys188Ter
NM_080871.4:c.519C>A NP_543147.2:p.Cys173Ter
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