Canonical Allele Identifier: CA2824870717

Gene: ARSDP1 GYG2P1

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.12363636G>A , CM000686.2:g.12363636G>A	GRCh38
NC_000024.9:g.14484367G>A , CM000686.1:g.14484367G>A	GRCh37
NC_000024.8:g.12994375G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000443820.2:n.193+1262G>A (ARSDP1)
ENST00000651802.1:n.450+42748C>T (GYG2P1)
ENST00000651835.1:n.319+43160C>T (GYG2P1)
ENST00000382966.5:n.284-8865C>T (GYG2P1)
ENST00000443820.1:n.193+1262G>A (ARSDP1)
XR_001756060.1:n.77C>T