ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA579077287
Gene: ASB10
HGNC
NCBI
Linked Data
dbSNP Id:
rs965819716
gnomAD v2:
7-150884349-G-T
gnomAD v4:
7-151187262-G-T
MyVariant Identifiers:
chr7:g.150884349G>T (hg19)
chr7:g.151187262G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.151187262G>T , CM000669.2:g.151187262G>T
GRCh38
NC_000007.13:g.150884349G>T , CM000669.1:g.150884349G>T
GRCh37
NC_000007.12:g.150515282G>T
NCBI36
NG_017016.1:g.5571C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000275838.5:c.-132C>A
ENSP00000275838.1:n.-132C>A
ENST00000377867.7:c.271+190C>A
ENSP00000367098.3:n.271+190C>A
ENST00000415615.1:c.*113C>A
ENSP00000410871.1:n.*113C>A
NM_001142459.1:c.-132C>A
NP_001135931.2:n.-132C>A
NM_001142460.1:c.-132C>A
NP_001135932.2:n.-132C>A
NM_080871.3:c.271+190C>A
NP_543147.2:n.271+190C>A
XM_005249949.3:c.4C>A
XP_005250006.1:p.Arg2Ser
NM_080871.4:c.271+190C>A
NP_543147.2:n.271+190C>A
Search 100 bp 5'
Search 100 bp 3'