Canonical Allele Identifier: CA519824304
Gene: GYG2P1 HGNC NCBI
ARSDP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrY:g.14496148G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12384345G>A , CM000686.2:g.12384345G>A GRCh38
NC_000024.9:g.14496148G>A , CM000686.1:g.14496148G>A GRCh37
NC_000024.8:g.13006156G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000382965.3:n.317-5596C>T (GYG2P1)
ENST00000689264.1:n.402-5596C>T (GYG2P1)
ENST00000443820.2:n.1323G>A (ARSDP1)
ENST00000651802.1:n.450+22039C>T (GYG2P1)
ENST00000651835.1:n.319+22451C>T (GYG2P1)
ENST00000382966.5:n.283+22451C>T (GYG2P1)
ENST00000443820.1:n.771G>A (ARSDP1)
ENST00000493160.5:n.803-1015C>T (GYG2P1)
XR_001756061.1:n.609-5596C>T
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