Canonical Allele Identifier: CA2824871278
Gene: GYG2P1 HGNC NCBI
ARSDP1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12379900A>T , CM000686.2:g.12379900A>T GRCh38
NC_000024.9:g.14491703A>T , CM000686.1:g.14491703A>T GRCh37
NC_000024.8:g.13001711A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000382965.3:n.317-1151T>A (GYG2P1)
ENST00000689264.1:n.402-1151T>A (GYG2P1)
ENST00000443820.2:n.989+2078A>T (ARSDP1)
ENST00000651802.1:n.450+26484T>A (GYG2P1)
ENST00000651835.1:n.319+26896T>A (GYG2P1)
ENST00000382966.5:n.284-25129T>A (GYG2P1)
ENST00000443820.1:n.438-2436A>T (ARSDP1)
XR_001756061.1:n.609-1151T>A
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