Canonical Allele Identifier: CA150543

Gene: ASB10

Linked Data

• ClinVar Variation Id: 99983
• ClinVar RCV Id: RCV000086433
• dbSNP Id: rs151344605
• ExAC: 7:150883516 G / A
• gnomAD v2: 7-150883516-G-A
• gnomAD v3: 7-151186429-G-A
• gnomAD v4: 7-151186429-G-A
• MyVariant Identifiers: chr7:g.150883516G>A (hg19) ; chr7:g.151186429G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151186429G>A , CM000669.2:g.151186429G>A	GRCh38
NC_000007.13:g.150883516G>A , CM000669.1:g.150883516G>A	GRCh37
NC_000007.12:g.150514449G>A	NCBI36
NG_017016.1:g.6404C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420175.3:c.547C>T MANE Select	ENSP00000391137.2:p.Arg183Cys
ENST00000275838.5:c.547C>T	ENSP00000275838.1:p.Arg183Cys
ENST00000377867.7:c.502C>T	ENSP00000367098.3:p.Arg168Cys
ENST00000420175.2:c.547C>T	ENSP00000391137.2:p.Arg183Cys
NM_001142459.1:c.547C>T	NP_001135931.2:p.Arg183Cys
NM_001142460.1:c.547C>T	NP_001135932.2:p.Arg183Cys
NM_080871.3:c.502C>T	NP_543147.2:p.Arg168Cys
XM_005249949.3:c.682C>T	XP_005250006.1:p.Arg228Cys
NM_001142459.2:c.547C>T MANE Select	NP_001135931.2:p.Arg183Cys
NM_080871.4:c.502C>T	NP_543147.2:p.Arg168Cys