Canonical Allele Identifier: CA4573878

Gene: ASB10

Linked Data

• ClinVar Variation Id: 1317780
• ClinVar RCV Id: RCV001769787 ; RCV003956366
• dbSNP Id: rs73727103
• ExAC: 7:150883613 G / A
• gnomAD v2: 7-150883613-G-A
• gnomAD v3: 7-151186526-G-A
• gnomAD v4: 7-151186526-G-A
• MyVariant Identifiers: chr7:g.150883613G>A (hg19) ; chr7:g.151186526G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151186526G>A , CM000669.2:g.151186526G>A	GRCh38
NC_000007.13:g.150883613G>A , CM000669.1:g.150883613G>A	GRCh37
NC_000007.12:g.150514546G>A	NCBI36
NG_017016.1:g.6307C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420175.3:c.450C>T MANE Select	ENSP00000391137.2:p.Thr150=
ENST00000275838.5:c.450C>T	ENSP00000275838.1:p.Thr150=
ENST00000377867.7:c.405C>T	ENSP00000367098.3:p.Thr135=
ENST00000420175.2:c.450C>T	ENSP00000391137.2:p.Thr150=
NM_001142459.1:c.450C>T	NP_001135931.2:p.Thr150=
NM_001142460.1:c.450C>T	NP_001135932.2:p.Thr150=
NM_080871.3:c.405C>T	NP_543147.2:p.Thr135=
XM_005249949.3:c.585C>T	XP_005250006.1:p.Thr195=
NM_001142459.2:c.450C>T MANE Select	NP_001135931.2:p.Thr150=
NM_080871.4:c.405C>T	NP_543147.2:p.Thr135=