Canonical Allele Identifier: CA4574016

Gene: ASB10

Linked Data

• dbSNP Id: rs750229976
• ExAC: 7:150884203 C / G
• gnomAD v2: 7-150884203-C-G
• MyVariant Identifiers: chr7:g.150884203C>G (hg19) ; chr7:g.151187116C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151187116C>G , CM000669.2:g.151187116C>G	GRCh38
NC_000007.13:g.150884203C>G , CM000669.1:g.150884203C>G	GRCh37
NC_000007.12:g.150515136C>G	NCBI36
NG_017016.1:g.5717G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420175.3:c.15G>C MANE Select	ENSP00000391137.2:p.Trp5Cys
ENST00000275838.5:c.15G>C	ENSP00000275838.1:p.Trp5Cys
ENST00000377867.7:c.271+336G>C	ENSP00000367098.3:n.271+336G>C
ENST00000415615.1:c.*122-63G>C	ENSP00000410871.1:n.*122-63G>C
ENST00000420175.2:c.15G>C	ENSP00000391137.2:p.Trp5Cys
NM_001142459.1:c.15G>C	NP_001135931.2:p.Trp5Cys
NM_001142460.1:c.15G>C	NP_001135932.2:p.Trp5Cys
NM_080871.3:c.271+336G>C	NP_543147.2:n.271+336G>C
XM_005249949.3:c.150G>C	XP_005250006.1:p.Trp50Cys
NM_001142459.2:c.15G>C MANE Select	NP_001135931.2:p.Trp5Cys
NM_080871.4:c.271+336G>C	NP_543147.2:n.271+336G>C