Canonical Allele Identifier: CA150522
Gene: ASB10 HGNC NCBI

Linked Data

ClinVar Variation Id: 99972
ClinVar RCV Id: RCV000086422
dbSNP Id: rs151344616
ExAC: 7:150884019 C / T
gnomAD v2: 7-150884019-C-T
gnomAD v3: 7-151186932-C-T
gnomAD v4: 7-151186932-C-T
COSMIC: COSM5782927 COSM5782928 COSM5782929
MyVariant Identifiers: chr7:g.150884019C>T (hg19) chr7:g.151186932C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.151186932C>T , CM000669.2:g.151186932C>T GRCh38
NC_000007.13:g.150884019C>T , CM000669.1:g.150884019C>T GRCh37
NC_000007.12:g.150514952C>T NCBI36
NG_017016.1:g.5901G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000420175.3:c.199G>A MANE Select ENSP00000391137.2:p.Val67Met
ENST00000275838.5:c.199G>A ENSP00000275838.1:p.Val67Met
ENST00000377867.7:c.272-273G>A ENSP00000367098.3:n.272-273G>A
ENST00000415615.1:c.*243G>A ENSP00000410871.1:n.*243G>A
ENST00000420175.2:c.199G>A ENSP00000391137.2:p.Val67Met
NM_001142459.1:c.199G>A NP_001135931.2:p.Val67Met
NM_001142460.1:c.199G>A NP_001135932.2:p.Val67Met
NM_080871.3:c.272-273G>A NP_543147.2:n.272-273G>A
XM_005249949.3:c.334G>A XP_005250006.1:p.Val112Met
NM_001142459.2:c.199G>A MANE Select NP_001135931.2:p.Val67Met
NM_080871.4:c.272-273G>A NP_543147.2:n.272-273G>A
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