Canonical Allele Identifier: CA150470

Gene: ASB10

Linked Data

• ClinVar Variation Id: 99946
• ClinVar RCV Id: RCV000086396 ; RCV002513929
• dbSNP Id: rs104886483
• ExAC: 7:150878084 A / G
• gnomAD v2: 7-150878084-A-G
• gnomAD v3: 7-151180997-A-G
• gnomAD v4: 7-151180997-A-G
• MyVariant Identifiers: chr7:g.150878084A>G (hg19) ; chr7:g.151180997A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151180997A>G , CM000669.2:g.151180997A>G	GRCh38
NC_000007.13:g.150878084A>G , CM000669.1:g.150878084A>G	GRCh37
NC_000007.12:g.150509017A>G	NCBI36
NG_017016.1:g.11836T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420175.3:c.1046T>C MANE Select	ENSP00000391137.2:p.Val349Ala
ENST00000275838.5:c.1046T>C	ENSP00000275838.1:p.Val349Ala
ENST00000377867.7:c.1001T>C	ENSP00000367098.3:p.Val334Ala
ENST00000420175.2:c.1046T>C	ENSP00000391137.2:p.Val349Ala
NM_001142459.1:c.1046T>C	NP_001135931.2:p.Val349Ala
NM_001142460.1:c.1046T>C	NP_001135932.2:p.Val349Ala
NM_080871.3:c.1001T>C	NP_543147.2:p.Val334Ala
XM_005249949.3:c.1181T>C	XP_005250006.1:p.Val394Ala
NM_001142459.2:c.1046T>C MANE Select	NP_001135931.2:p.Val349Ala
NM_080871.4:c.1001T>C	NP_543147.2:p.Val334Ala