Canonical Allele Identifier: CA4573961

Gene: ASB10

Linked Data

• dbSNP Id: rs778403351
• ExAC: 7:150883998 G / A
• gnomAD v2: 7-150883998-G-A
• gnomAD v4: 7-151186911-G-A
• MyVariant Identifiers: chr7:g.150883998G>A (hg19) ; chr7:g.151186911G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151186911G>A , CM000669.2:g.151186911G>A	GRCh38
NC_000007.13:g.150883998G>A , CM000669.1:g.150883998G>A	GRCh37
NC_000007.12:g.150514931G>A	NCBI36
NG_017016.1:g.5922C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420175.3:c.220C>T MANE Select	ENSP00000391137.2:p.Leu74Phe
ENST00000275838.5:c.220C>T	ENSP00000275838.1:p.Leu74Phe
ENST00000377867.7:c.272-252C>T	ENSP00000367098.3:n.272-252C>T
ENST00000415615.1:c.*264C>T	ENSP00000410871.1:n.*264C>T
ENST00000420175.2:c.220C>T	ENSP00000391137.2:p.Leu74Phe
NM_001142459.1:c.220C>T	NP_001135931.2:p.Leu74Phe
NM_001142460.1:c.220C>T	NP_001135932.2:p.Leu74Phe
NM_080871.3:c.272-252C>T	NP_543147.2:n.272-252C>T
XM_005249949.3:c.355C>T	XP_005250006.1:p.Leu119Phe
NM_001142459.2:c.220C>T MANE Select	NP_001135931.2:p.Leu74Phe
NM_080871.4:c.272-252C>T	NP_543147.2:n.272-252C>T