Canonical Allele Identifier: CA169126425

Gene: ASB10

Linked Data

• dbSNP Id: rs1018714223
• gnomAD v2: 7-150884348-C-T
• gnomAD v3: 7-151187261-C-T
• gnomAD v4: 7-151187261-C-T
• MyVariant Identifiers: chr7:g.150884348C>T (hg19) ; chr7:g.151187261C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151187261C>T , CM000669.2:g.151187261C>T	GRCh38
NC_000007.13:g.150884348C>T , CM000669.1:g.150884348C>T	GRCh37
NC_000007.12:g.150515281C>T	NCBI36
NG_017016.1:g.5572G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275838.5:c.-131G>A	ENSP00000275838.1:n.-131G>A
ENST00000377867.7:c.271+191G>A	ENSP00000367098.3:n.271+191G>A
ENST00000415615.1:c.*114G>A	ENSP00000410871.1:n.*114G>A
NM_001142459.1:c.-131G>A	NP_001135931.2:n.-131G>A
NM_001142460.1:c.-131G>A	NP_001135932.2:n.-131G>A
NM_080871.3:c.271+191G>A	NP_543147.2:n.271+191G>A
XM_005249949.3:c.5G>A	XP_005250006.1:p.Arg2His
NM_080871.4:c.271+191G>A	NP_543147.2:n.271+191G>A