Canonical Allele Identifier: CA169125452

Gene: ASB10

Linked Data

• dbSNP Id: rs944631733
• gnomAD v4: 7-151186606-C-G
• MyVariant Identifiers: chr7:g.150883693C>G (hg19) ; chr7:g.151186606C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151186606C>G , CM000669.2:g.151186606C>G	GRCh38
NC_000007.13:g.150883693C>G , CM000669.1:g.150883693C>G	GRCh37
NC_000007.12:g.150514626C>G	NCBI36
NG_017016.1:g.6227G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420175.3:c.370G>C MANE Select	ENSP00000391137.2:p.Ala124Pro
ENST00000275838.5:c.370G>C	ENSP00000275838.1:p.Ala124Pro
ENST00000377867.7:c.325G>C	ENSP00000367098.3:p.Ala109Pro
ENST00000420175.2:c.370G>C	ENSP00000391137.2:p.Ala124Pro
NM_001142459.1:c.370G>C	NP_001135931.2:p.Ala124Pro
NM_001142460.1:c.370G>C	NP_001135932.2:p.Ala124Pro
NM_080871.3:c.325G>C	NP_543147.2:p.Ala109Pro
XM_005249949.3:c.505G>C	XP_005250006.1:p.Ala169Pro
NM_001142459.2:c.370G>C MANE Select	NP_001135931.2:p.Ala124Pro
NM_080871.4:c.325G>C	NP_543147.2:p.Ala109Pro