Canonical Allele Identifier: CA143901
Gene: ASB10 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.151186916C>T
GRCh37 chr7:g.150884003C>T
Revel Score:
ENST00000275838 0.033
ENST00000422024 0.033
ENST00000434669 0.033
ENST00000420175 (MANE Select) 0.033
gnomAD v2:
7:150884003 C / T
gnomAD v3:
7:151186916 C / T
gnomAD v4:
chr7-151186916-C-T
Joint Max Group AF 0.00295994 (NFE)
Genomes Max Group AF 0.00280077 (NFE)
Exomes Max Group AF 0.00295136 (NFE)
ClinVar RCV:
RCV000043659
RCV000970678
ClinVar Variation:
50954
dbSNP:
104886488
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.151186916C>T , CM000669.2:g.151186916C>T GRCh38
NC_000007.13:g.150884003C>T , CM000669.1:g.150884003C>T GRCh37
NC_000007.12:g.150514936C>T NCBI36
NG_017016.1:g.5917G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000420175.3:c.215G>A MANE Select ENSP00000391137.2:p.Arg72His
ENST00000275838.5:c.215G>A ENSP00000275838.1:p.Arg72His
ENST00000377867.7:c.272-257G>A ENSP00000367098.3:n.272-257G>A
ENST00000415615.1:c.*259G>A ENSP00000410871.1:n.*259G>A
ENST00000420175.2:c.215G>A ENSP00000391137.2:p.Arg72His
NM_001142459.1:c.215G>A NP_001135931.2:p.Arg72His
NM_001142460.1:c.215G>A NP_001135932.2:p.Arg72His
NM_080871.3:c.272-257G>A NP_543147.2:n.272-257G>A
XM_005249949.3:c.350G>A XP_005250006.1:p.Arg117His
NM_001142459.2:c.215G>A MANE Select NP_001135931.2:p.Arg72His
NM_080871.4:c.272-257G>A NP_543147.2:n.272-257G>A
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