Canonical Allele Identifier: CA370035710

Gene: ASB10

Linked Data

• gnomAD v4: 7-151186417-G-A
• MyVariant Identifiers: chr7:g.150883504G>A (hg19) ; chr7:g.151186417G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151186417G>A , CM000669.2:g.151186417G>A	GRCh38
NC_000007.13:g.150883504G>A , CM000669.1:g.150883504G>A	GRCh37
NC_000007.12:g.150514437G>A	NCBI36
NG_017016.1:g.6416C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420175.3:c.559C>T MANE Select	ENSP00000391137.2:p.Leu187Phe
ENST00000275838.5:c.559C>T	ENSP00000275838.1:p.Leu187Phe
ENST00000377867.7:c.514C>T	ENSP00000367098.3:p.Leu172Phe
ENST00000420175.2:c.559C>T	ENSP00000391137.2:p.Leu187Phe
NM_001142459.1:c.559C>T	NP_001135931.2:p.Leu187Phe
NM_001142460.1:c.559C>T	NP_001135932.2:p.Leu187Phe
NM_080871.3:c.514C>T	NP_543147.2:p.Leu172Phe
XM_005249949.3:c.694C>T	XP_005250006.1:p.Leu232Phe
NM_001142459.2:c.559C>T MANE Select	NP_001135931.2:p.Leu187Phe
NM_080871.4:c.514C>T	NP_543147.2:p.Leu172Phe