Canonical Allele Identifier: CA169125998

Gene: ASB10

Linked Data

• dbSNP Id: rs751296543
• gnomAD v2: 7-150884071-G-A
• gnomAD v3: 7-151186984-G-A
• gnomAD v4: 7-151186984-G-A
• MyVariant Identifiers: chr7:g.150884071G>A (hg19) ; chr7:g.151186984G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151186984G>A , CM000669.2:g.151186984G>A	GRCh38
NC_000007.13:g.150884071G>A , CM000669.1:g.150884071G>A	GRCh37
NC_000007.12:g.150515004G>A	NCBI36
NG_017016.1:g.5849C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420175.3:c.147C>T MANE Select	ENSP00000391137.2:p.Arg49=
ENST00000275838.5:c.147C>T	ENSP00000275838.1:p.Arg49=
ENST00000377867.7:c.272-325C>T	ENSP00000367098.3:n.272-325C>T
ENST00000415615.1:c.*191C>T	ENSP00000410871.1:n.*191C>T
ENST00000420175.2:c.147C>T	ENSP00000391137.2:p.Arg49=
NM_001142459.1:c.147C>T	NP_001135931.2:p.Arg49=
NM_001142460.1:c.147C>T	NP_001135932.2:p.Arg49=
NM_080871.3:c.272-325C>T	NP_543147.2:n.272-325C>T
XM_005249949.3:c.282C>T	XP_005250006.1:p.Arg94=
NM_001142459.2:c.147C>T MANE Select	NP_001135931.2:p.Arg49=
NM_080871.4:c.272-325C>T	NP_543147.2:n.272-325C>T