Canonical Allele Identifier: CA370038050

Gene: ASB10

Linked Data

• gnomAD v4: 7-151187082-G-A
• MyVariant Identifiers: chr7:g.150884169G>A (hg19) ; chr7:g.151187082G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151187082G>A , CM000669.2:g.151187082G>A	GRCh38
NC_000007.13:g.150884169G>A , CM000669.1:g.150884169G>A	GRCh37
NC_000007.12:g.150515102G>A	NCBI36
NG_017016.1:g.5751C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420175.3:c.49C>T MANE Select	ENSP00000391137.2:p.Leu17Phe
ENST00000275838.5:c.49C>T	ENSP00000275838.1:p.Leu17Phe
ENST00000377867.7:c.271+370C>T	ENSP00000367098.3:n.271+370C>T
ENST00000415615.1:c.*122-29C>T	ENSP00000410871.1:n.*122-29C>T
ENST00000420175.2:c.49C>T	ENSP00000391137.2:p.Leu17Phe
NM_001142459.1:c.49C>T	NP_001135931.2:p.Leu17Phe
NM_001142460.1:c.49C>T	NP_001135932.2:p.Leu17Phe
NM_080871.3:c.271+370C>T	NP_543147.2:n.271+370C>T
XM_005249949.3:c.184C>T	XP_005250006.1:p.Leu62Phe
NM_001142459.2:c.49C>T MANE Select	NP_001135931.2:p.Leu17Phe
NM_080871.4:c.271+370C>T	NP_543147.2:n.271+370C>T