Canonical Allele Identifier: CA169125146

Gene: ASB10

Linked Data

• dbSNP Id: rs889566543
• gnomAD v2: 7-150883497-C-T
• gnomAD v3: 7-151186410-C-T
• gnomAD v4: 7-151186410-C-T
• MyVariant Identifiers: chr7:g.150883497C>T (hg19) ; chr7:g.151186410C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151186410C>T , CM000669.2:g.151186410C>T	GRCh38
NC_000007.13:g.150883497C>T , CM000669.1:g.150883497C>T	GRCh37
NC_000007.12:g.150514430C>T	NCBI36
NG_017016.1:g.6423G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420175.3:c.566G>A MANE Select	ENSP00000391137.2:p.Arg189Gln
ENST00000275838.5:c.566G>A	ENSP00000275838.1:p.Arg189Gln
ENST00000377867.7:c.521G>A	ENSP00000367098.3:p.Arg174Gln
ENST00000420175.2:c.566G>A	ENSP00000391137.2:p.Arg189Gln
NM_001142459.1:c.566G>A	NP_001135931.2:p.Arg189Gln
NM_001142460.1:c.566G>A	NP_001135932.2:p.Arg189Gln
NM_080871.3:c.521G>A	NP_543147.2:p.Arg174Gln
XM_005249949.3:c.701G>A	XP_005250006.1:p.Arg234Gln
NM_001142459.2:c.566G>A MANE Select	NP_001135931.2:p.Arg189Gln
NM_080871.4:c.521G>A	NP_543147.2:p.Arg174Gln