Canonical Allele Identifier: CA519823839
Gene: GYG2P1 HGNC NCBI
ARSDP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrY:g.14496120A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12384317A>G , CM000686.2:g.12384317A>G GRCh38
NC_000024.9:g.14496120A>G , CM000686.1:g.14496120A>G GRCh37
NC_000024.8:g.13006128A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000382965.3:n.317-5568T>C (GYG2P1)
ENST00000689264.1:n.402-5568T>C (GYG2P1)
ENST00000443820.2:n.1295A>G (ARSDP1)
ENST00000651802.1:n.450+22067T>C (GYG2P1)
ENST00000651835.1:n.319+22479T>C (GYG2P1)
ENST00000382966.5:n.283+22479T>C (GYG2P1)
ENST00000443820.1:n.743A>G (ARSDP1)
ENST00000493160.5:n.803-987T>C (GYG2P1)
XR_001756061.1:n.609-5568T>C