Canonical Allele Identifier: CA337714061
Gene: GYG2P1 HGNC NCBI
ARSDP1 HGNC NCBI

Linked Data

dbSNP Id: rs749931963
gnomAD v3: Y-12384818-A-G
gnomAD v4: Y-12384818-A-G
MyVariant Identifiers: chrY:g.14496613A>G (hg19) chrY:g.12384818A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12384818A>G , CM000686.2:g.12384818A>G GRCh38
NC_000024.9:g.14496613A>G , CM000686.1:g.14496613A>G GRCh37
NC_000024.8:g.13006621A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000382965.3:n.317-6069T>C (GYG2P1)
ENST00000689264.1:n.402-6069T>C (GYG2P1)
ENST00000443820.2:n.1408+388A>G (ARSDP1)
ENST00000651802.1:n.450+21566T>C (GYG2P1)
ENST00000651835.1:n.319+21978T>C (GYG2P1)
ENST00000382966.5:n.283+21978T>C (GYG2P1)
ENST00000443820.1:n.856+388A>G (ARSDP1)
ENST00000493160.5:n.803-1488T>C (GYG2P1)
XR_001756061.1:n.609-6069T>C
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