Canonical Allele Identifier: CA4573894

Gene: ASB10

Linked Data

• dbSNP Id: rs769879890
• ExAC: 7:150883656 A / C
• gnomAD v2: 7-150883656-A-C
• gnomAD v4: 7-151186569-A-C
• MyVariant Identifiers: chr7:g.150883656A>C (hg19) ; chr7:g.151186569A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151186569A>C , CM000669.2:g.151186569A>C	GRCh38
NC_000007.13:g.150883656A>C , CM000669.1:g.150883656A>C	GRCh37
NC_000007.12:g.150514589A>C	NCBI36
NG_017016.1:g.6264T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420175.3:c.407T>G MANE Select	ENSP00000391137.2:p.Leu136Arg
ENST00000275838.5:c.407T>G	ENSP00000275838.1:p.Leu136Arg
ENST00000377867.7:c.362T>G	ENSP00000367098.3:p.Leu121Arg
ENST00000420175.2:c.407T>G	ENSP00000391137.2:p.Leu136Arg
NM_001142459.1:c.407T>G	NP_001135931.2:p.Leu136Arg
NM_001142460.1:c.407T>G	NP_001135932.2:p.Leu136Arg
NM_080871.3:c.362T>G	NP_543147.2:p.Leu121Arg
XM_005249949.3:c.542T>G	XP_005250006.1:p.Leu181Arg
NM_001142459.2:c.407T>G MANE Select	NP_001135931.2:p.Leu136Arg
NM_080871.4:c.362T>G	NP_543147.2:p.Leu121Arg