Canonical Allele Identifier: CA519827373
Gene: GYG2P1 HGNC NCBI
ARSDP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrY:g.14498902T>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12387107T>A , CM000686.2:g.12387107T>A GRCh38
NC_000024.9:g.14498902T>A , CM000686.1:g.14498902T>A GRCh37
NC_000024.8:g.13008910T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000382965.3:n.317-8358A>T (GYG2P1)
ENST00000689264.1:n.402-8358A>T (GYG2P1)
ENST00000443820.2:n.1546T>A (ARSDP1)
ENST00000651802.1:n.450+19277A>T (GYG2P1)
ENST00000651835.1:n.319+19689A>T (GYG2P1)
ENST00000382966.5:n.283+19689A>T (GYG2P1)
ENST00000443820.1:n.994T>A (ARSDP1)
ENST00000493160.5:n.803-3777A>T (GYG2P1)
XR_001756061.1:n.609-8358A>T
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