Canonical Allele Identifier: CA2685657729

Gene: ASB10

Linked Data

• gnomAD v4: 7-151187253-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151187253C>T , CM000669.2:g.151187253C>T	GRCh38
NC_000007.13:g.150884340C>T , CM000669.1:g.150884340C>T	GRCh37
NC_000007.12:g.150515273C>T	NCBI36
NG_017016.1:g.5580G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275838.5:c.-123G>A	ENSP00000275838.1:n.-123G>A
ENST00000377867.7:c.271+199G>A	ENSP00000367098.3:n.271+199G>A
ENST00000415615.1:c.*121+1G>A	ENSP00000410871.1:n.*121+1G>A
NM_001142459.1:c.-123G>A	NP_001135931.2:n.-123G>A
NM_001142460.1:c.-123G>A	NP_001135932.2:n.-123G>A
NM_080871.3:c.271+199G>A	NP_543147.2:n.271+199G>A
XM_005249949.3:c.13G>A	XP_005250006.1:p.Val5Ile
NM_080871.4:c.271+199G>A	NP_543147.2:n.271+199G>A