ClinGen Allele Registry
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Canonical Allele Identifier:
CA2685657731
Gene: ASB10
HGNC
NCBI
Linked Data
gnomAD v4:
7-151187263-C-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.151187263C>A , CM000669.2:g.151187263C>A
GRCh38
NC_000007.13:g.150884350C>A , CM000669.1:g.150884350C>A
GRCh37
NC_000007.12:g.150515283C>A
NCBI36
NG_017016.1:g.5570G>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000275838.5:c.-133G>T
ENSP00000275838.1:n.-133G>T
ENST00000377867.7:c.271+189G>T
ENSP00000367098.3:n.271+189G>T
ENST00000415615.1:c.*112G>T
ENSP00000410871.1:n.*112G>T
NM_001142459.1:c.-133G>T
NP_001135931.2:n.-133G>T
NM_001142460.1:c.-133G>T
NP_001135932.2:n.-133G>T
NM_080871.3:c.271+189G>T
NP_543147.2:n.271+189G>T
XM_005249949.3:c.3G>T
XP_005250006.1:p.Met1Ile
NM_080871.4:c.271+189G>T
NP_543147.2:n.271+189G>T
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