Canonical Allele Identifier: CA2685657728

Gene: ASB10

Linked Data

• gnomAD v4: 7-151187253-C-A

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275838.5:c.-123G>T	ENSP00000275838.1:n.-123G>T
ENST00000377867.7:c.271+199G>T	ENSP00000367098.3:n.271+199G>T
ENST00000415615.1:c.*121+1G>T	ENSP00000410871.1:n.*121+1G>T
NM_001142459.1:c.-123G>T	NP_001135931.2:n.-123G>T
NM_001142460.1:c.-123G>T	NP_001135932.2:n.-123G>T
NM_080871.3:c.271+199G>T	NP_543147.2:n.271+199G>T
XM_005249949.3:c.13G>T	XP_005250006.1:p.Val5Phe
NM_080871.4:c.271+199G>T	NP_543147.2:n.271+199G>T