Canonical Allele Identifier: CA150518

Gene: ASB10

Linked Data

• ClinVar Variation Id: 99970
• ClinVar RCV Id: RCV000086420
• dbSNP Id: rs151344620
• MyVariant Identifiers: chr7:g.150884113A>C (hg19) ; chr7:g.151187026A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151187026A>C , CM000669.2:g.151187026A>C	GRCh38
NC_000007.13:g.150884113A>C , CM000669.1:g.150884113A>C	GRCh37
NC_000007.12:g.150515046A>C	NCBI36
NG_017016.1:g.5807T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420175.3:c.105T>G MANE Select	ENSP00000391137.2:p.Ser35=
ENST00000275838.5:c.105T>G	ENSP00000275838.1:p.Ser35=
ENST00000377867.7:c.272-367T>G	ENSP00000367098.3:n.272-367T>G
ENST00000415615.1:c.*149T>G	ENSP00000410871.1:n.*149T>G
ENST00000420175.2:c.105T>G	ENSP00000391137.2:p.Ser35=
NM_001142459.1:c.105T>G	NP_001135931.2:p.Ser35=
NM_001142460.1:c.105T>G	NP_001135932.2:p.Ser35=
NM_080871.3:c.272-367T>G	NP_543147.2:n.272-367T>G
XM_005249949.3:c.240T>G	XP_005250006.1:p.Ser80=
NM_001142459.2:c.105T>G MANE Select	NP_001135931.2:p.Ser35=
NM_080871.4:c.272-367T>G	NP_543147.2:n.272-367T>G