Canonical Allele Identifier: CA150524

Gene: ASB10

Linked Data

• ClinVar Variation Id: 99973
• ClinVar RCV Id: RCV000086423
• dbSNP Id: rs151344621
• ExAC: 7:150884014 G / C
• gnomAD v2: 7-150884014-G-C
• gnomAD v3: 7-151186927-G-C
• gnomAD v4: 7-151186927-G-C
• MyVariant Identifiers: chr7:g.150884014G>C (hg19) ; chr7:g.151186927G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151186927G>C , CM000669.2:g.151186927G>C	GRCh38
NC_000007.13:g.150884014G>C , CM000669.1:g.150884014G>C	GRCh37
NC_000007.12:g.150514947G>C	NCBI36
NG_017016.1:g.5906C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000420175.3:c.204C>G MANE Select	ENSP00000391137.2:p.Gly68=
ENST00000275838.5:c.204C>G	ENSP00000275838.1:p.Gly68=
ENST00000377867.7:c.272-268C>G	ENSP00000367098.3:n.272-268C>G
ENST00000415615.1:c.*248C>G	ENSP00000410871.1:n.*248C>G
ENST00000420175.2:c.204C>G	ENSP00000391137.2:p.Gly68=
NM_001142459.1:c.204C>G	NP_001135931.2:p.Gly68=
NM_001142460.1:c.204C>G	NP_001135932.2:p.Gly68=
NM_080871.3:c.272-268C>G	NP_543147.2:n.272-268C>G
XM_005249949.3:c.339C>G	XP_005250006.1:p.Gly113=
NM_001142459.2:c.204C>G MANE Select	NP_001135931.2:p.Gly68=
NM_080871.4:c.272-268C>G	NP_543147.2:n.272-268C>G