Canonical Allele Identifier: CA519829237
Gene: GYG2P1 HGNC NCBI
ARSDP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrY:g.14499045C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12387250C>A , CM000686.2:g.12387250C>A GRCh38
NC_000024.9:g.14499045C>A , CM000686.1:g.14499045C>A GRCh37
NC_000024.8:g.13009053C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000382965.3:n.317-8501G>T (GYG2P1)
ENST00000689264.1:n.402-8501G>T (GYG2P1)
ENST00000443820.2:n.1689C>A (ARSDP1)
ENST00000651802.1:n.450+19134G>T (GYG2P1)
ENST00000651835.1:n.319+19546G>T (GYG2P1)
ENST00000382966.5:n.283+19546G>T (GYG2P1)
ENST00000443820.1:n.1137C>A (ARSDP1)
ENST00000493160.5:n.803-3920G>T (GYG2P1)
XR_001756061.1:n.609-8501G>T