Canonical Allele Identifier: CA337714063
Gene: GYG2P1 HGNC NCBI
ARSDP1 HGNC NCBI

Linked Data

dbSNP Id: rs779818987
gnomAD v3: Y-12385060-G-A
gnomAD v4: Y-12385060-G-A
MyVariant Identifiers: chrY:g.14496855G>A (hg19) chrY:g.12385060G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12385060G>A , CM000686.2:g.12385060G>A GRCh38
NC_000024.9:g.14496855G>A , CM000686.1:g.14496855G>A GRCh37
NC_000024.8:g.13006863G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000382965.3:n.317-6311C>T (GYG2P1)
ENST00000689264.1:n.402-6311C>T (GYG2P1)
ENST00000443820.2:n.1408+630G>A (ARSDP1)
ENST00000651802.1:n.450+21324C>T (GYG2P1)
ENST00000651835.1:n.319+21736C>T (GYG2P1)
ENST00000382966.5:n.283+21736C>T (GYG2P1)
ENST00000443820.1:n.856+630G>A (ARSDP1)
ENST00000493160.5:n.803-1730C>T (GYG2P1)
XR_001756061.1:n.609-6311C>T
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