Canonical Allele Identifier: CA519828833
Gene: GYG2P1 HGNC NCBI
ARSDP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrY:g.14499009G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12387214G>C , CM000686.2:g.12387214G>C GRCh38
NC_000024.9:g.14499009G>C , CM000686.1:g.14499009G>C GRCh37
NC_000024.8:g.13009017G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000382965.3:n.317-8465C>G (GYG2P1)
ENST00000689264.1:n.402-8465C>G (GYG2P1)
ENST00000443820.2:n.1653G>C (ARSDP1)
ENST00000651802.1:n.450+19170C>G (GYG2P1)
ENST00000651835.1:n.319+19582C>G (GYG2P1)
ENST00000382966.5:n.283+19582C>G (GYG2P1)
ENST00000443820.1:n.1101G>C (ARSDP1)
ENST00000493160.5:n.803-3884C>G (GYG2P1)
XR_001756061.1:n.609-8465C>G