Canonical Allele Identifier: CA519829227
Gene: GYG2P1 HGNC NCBI
ARSDP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrY:g.14499043A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12387248A>G , CM000686.2:g.12387248A>G GRCh38
NC_000024.9:g.14499043A>G , CM000686.1:g.14499043A>G GRCh37
NC_000024.8:g.13009051A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000382965.3:n.317-8499T>C (GYG2P1)
ENST00000689264.1:n.402-8499T>C (GYG2P1)
ENST00000443820.2:n.1687A>G (ARSDP1)
ENST00000651802.1:n.450+19136T>C (GYG2P1)
ENST00000651835.1:n.319+19548T>C (GYG2P1)
ENST00000382966.5:n.283+19548T>C (GYG2P1)
ENST00000443820.1:n.1135A>G (ARSDP1)
ENST00000493160.5:n.803-3918T>C (GYG2P1)
XR_001756061.1:n.609-8499T>C