Canonical Allele Identifier: CA1139248563
Gene: ARSDP1 HGNC NCBI
GYG2P1 HGNC NCBI

Linked Data

dbSNP Id: rs2053250588
gnomAD v3: Y-12363564-C-A
gnomAD v4: Y-12363564-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12363564C>A , CM000686.2:g.12363564C>A GRCh38
NC_000024.9:g.14484295C>A , CM000686.1:g.14484295C>A GRCh37
NC_000024.8:g.12994303C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000443820.2:n.193+1190C>A (ARSDP1)
ENST00000651802.1:n.450+42820G>T (GYG2P1)
ENST00000651835.1:n.319+43232G>T (GYG2P1)
ENST00000382966.5:n.284-8793G>T (GYG2P1)
ENST00000443820.1:n.193+1190C>A (ARSDP1)
XR_001756060.1:n.149G>T
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