ClinGen Allele Registry
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Canonical Allele Identifier:
CA2739944796
Gene: ASB10
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.151187264A>G , CM000669.2:g.151187264A>G
GRCh38
NC_000007.13:g.150884351A>G , CM000669.1:g.150884351A>G
GRCh37
NC_000007.12:g.150515284A>G
NCBI36
NG_017016.1:g.5569T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000275838.5:c.-134T>C
ENSP00000275838.1:n.-134T>C
ENST00000377867.7:c.271+188T>C
ENSP00000367098.3:n.271+188T>C
ENST00000415615.1:c.*111T>C
ENSP00000410871.1:n.*111T>C
NM_001142459.1:c.-134T>C
NP_001135931.2:n.-134T>C
NM_001142460.1:c.-134T>C
NP_001135932.2:n.-134T>C
NM_080871.3:c.271+188T>C
NP_543147.2:n.271+188T>C
XM_005249949.3:c.2T>C
XP_005250006.1:p.Met1Thr
NM_080871.4:c.271+188T>C
NP_543147.2:n.271+188T>C
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