Canonical Allele Identifier: CA2766238469
Gene: GYG2P1 HGNC NCBI
ARSDP1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12379867G>T , CM000686.2:g.12379867G>T GRCh38
NC_000024.9:g.14491670G>T , CM000686.1:g.14491670G>T GRCh37
NC_000024.8:g.13001678G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000382965.3:n.317-1118C>A (GYG2P1)
ENST00000689264.1:n.402-1118C>A (GYG2P1)
ENST00000443820.2:n.989+2045G>T (ARSDP1)
ENST00000651802.1:n.450+26517C>A (GYG2P1)
ENST00000651835.1:n.319+26929C>A (GYG2P1)
ENST00000382966.5:n.284-25096C>A (GYG2P1)
ENST00000443820.1:n.438-2469G>T (ARSDP1)
XR_001756061.1:n.609-1118C>A
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