Canonical Allele Identifier: CA228061

Gene: ASB10

Linked Data

• ClinVar Variation Id: 99991
• ClinVar RCV Id: RCV000086441
• dbSNP Id: rs104886491
• MyVariant Identifiers: chr7:g.150884024C>T (hg19) ; chr7:g.151186937C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151186937C>T , CM000669.2:g.151186937C>T	GRCh38
NC_000007.13:g.150884024C>T , CM000669.1:g.150884024C>T	GRCh37
NC_000007.12:g.150514957C>T	NCBI36
NG_017016.1:g.5896G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420175.3:c.194G>A MANE Select	ENSP00000391137.2:p.Gly65Glu
ENST00000275838.5:c.194G>A	ENSP00000275838.1:p.Gly65Glu
ENST00000377867.7:c.272-278G>A	ENSP00000367098.3:n.272-278G>A
ENST00000415615.1:c.*238G>A	ENSP00000410871.1:n.*238G>A
ENST00000420175.2:c.194G>A	ENSP00000391137.2:p.Gly65Glu
NM_001142459.1:c.194G>A	NP_001135931.2:p.Gly65Glu
NM_001142460.1:c.194G>A	NP_001135932.2:p.Gly65Glu
NM_080871.3:c.272-278G>A	NP_543147.2:n.272-278G>A
XM_005249949.3:c.329G>A	XP_005250006.1:p.Gly110Glu
NM_001142459.2:c.194G>A MANE Select	NP_001135931.2:p.Gly65Glu
NM_080871.4:c.272-278G>A	NP_543147.2:n.272-278G>A