Canonical Allele Identifier: CA143901
Gene: ASB10 HGNC NCBI

Linked Data

ClinVar Variation Id: 50954
dbSNP Id: rs104886488

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