ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2739944785
Gene: ASB10
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.151187255T>A , CM000669.2:g.151187255T>A
GRCh38
NC_000007.13:g.150884342T>A , CM000669.1:g.150884342T>A
GRCh37
NC_000007.12:g.150515275T>A
NCBI36
NG_017016.1:g.5578A>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000275838.5:c.-125A>T
ENSP00000275838.1:n.-125A>T
ENST00000377867.7:c.271+197A>T
ENSP00000367098.3:n.271+197A>T
ENST00000415615.1:c.*120A>T
ENSP00000410871.1:n.*120A>T
NM_001142459.1:c.-125A>T
NP_001135931.2:n.-125A>T
NM_001142460.1:c.-125A>T
NP_001135932.2:n.-125A>T
NM_080871.3:c.271+197A>T
NP_543147.2:n.271+197A>T
XM_005249949.3:c.11A>T
XP_005250006.1:p.Gln4Leu
NM_080871.4:c.271+197A>T
NP_543147.2:n.271+197A>T
Search 100 bp 5'
Search 100 bp 3'