Canonical Allele Identifier: CA150538

Gene: ASB10

Linked Data

• ClinVar Variation Id: 99980
• ClinVar RCV Id: RCV000086430
• dbSNP Id: rs151344614
• ExAC: 7:150878038 C / A
• gnomAD v2: 7-150878038-C-A
• gnomAD v3: 7-151180951-C-A
• gnomAD v4: 7-151180951-C-A
• MyVariant Identifiers: chr7:g.150878038C>A (hg19) ; chr7:g.151180951C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151180951C>A , CM000669.2:g.151180951C>A	GRCh38
NC_000007.13:g.150878038C>A , CM000669.1:g.150878038C>A	GRCh37
NC_000007.12:g.150508971C>A	NCBI36
NG_017016.1:g.11882G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420175.3:c.1092G>T MANE Select	ENSP00000391137.2:p.Gly364=
ENST00000275838.5:c.1092G>T	ENSP00000275838.1:p.Gly364=
ENST00000377867.7:c.1047G>T	ENSP00000367098.3:p.Gly349=
ENST00000420175.2:c.1092G>T	ENSP00000391137.2:p.Gly364=
NM_001142459.1:c.1092G>T	NP_001135931.2:p.Gly364=
NM_001142460.1:c.1092G>T	NP_001135932.2:p.Gly364=
NM_080871.3:c.1047G>T	NP_543147.2:p.Gly349=
XM_005249949.3:c.1227G>T	XP_005250006.1:p.Gly409=
NM_001142459.2:c.1092G>T MANE Select	NP_001135931.2:p.Gly364=
NM_080871.4:c.1047G>T	NP_543147.2:p.Gly349=