Canonical Allele Identifier: CA1139249575
Gene: ARSDP1 HGNC NCBI
GYG2P1 HGNC NCBI

Linked Data

gnomAD v3: Y-12365908-T-C
gnomAD v4: Y-12365908-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12365908T>C , CM000686.2:g.12365908T>C GRCh38
NC_000024.9:g.14486639T>C , CM000686.1:g.14486639T>C GRCh37
NC_000024.8:g.12996647T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000443820.2:n.194-32T>C (ARSDP1)
ENST00000651802.1:n.450+40476A>G (GYG2P1)
ENST00000651835.1:n.319+40888A>G (GYG2P1)
ENST00000382966.5:n.284-11137A>G (GYG2P1)
ENST00000443820.1:n.194-32T>C (ARSDP1)
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