Canonical Allele Identifier: CA169125901

Gene: ASB10

Linked Data

• dbSNP Id: rs151344616
• gnomAD v3: 7-151186932-C-G
• gnomAD v4: 7-151186932-C-G
• MyVariant Identifiers: chr7:g.150884019C>G (hg19) ; chr7:g.151186932C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151186932C>G , CM000669.2:g.151186932C>G	GRCh38
NC_000007.13:g.150884019C>G , CM000669.1:g.150884019C>G	GRCh37
NC_000007.12:g.150514952C>G	NCBI36
NG_017016.1:g.5901G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420175.3:c.199G>C MANE Select	ENSP00000391137.2:p.Val67Leu
ENST00000275838.5:c.199G>C	ENSP00000275838.1:p.Val67Leu
ENST00000377867.7:c.272-273G>C	ENSP00000367098.3:n.272-273G>C
ENST00000415615.1:c.*243G>C	ENSP00000410871.1:n.*243G>C
ENST00000420175.2:c.199G>C	ENSP00000391137.2:p.Val67Leu
NM_001142459.1:c.199G>C	NP_001135931.2:p.Val67Leu
NM_001142460.1:c.199G>C	NP_001135932.2:p.Val67Leu
NM_080871.3:c.272-273G>C	NP_543147.2:n.272-273G>C
XM_005249949.3:c.334G>C	XP_005250006.1:p.Val112Leu
NM_001142459.2:c.199G>C MANE Select	NP_001135931.2:p.Val67Leu
NM_080871.4:c.272-273G>C	NP_543147.2:n.272-273G>C