Canonical Allele Identifier: CA519825248
Gene: GYG2P1 HGNC NCBI
ARSDP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrY:g.14496220G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12384417G>C , CM000686.2:g.12384417G>C GRCh38
NC_000024.9:g.14496220G>C , CM000686.1:g.14496220G>C GRCh37
NC_000024.8:g.13006228G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000382965.3:n.317-5668C>G (GYG2P1)
ENST00000689264.1:n.402-5668C>G (GYG2P1)
ENST00000443820.2:n.1395G>C (ARSDP1)
ENST00000651802.1:n.450+21967C>G (GYG2P1)
ENST00000651835.1:n.319+22379C>G (GYG2P1)
ENST00000382966.5:n.283+22379C>G (GYG2P1)
ENST00000443820.1:n.843G>C (ARSDP1)
ENST00000493160.5:n.803-1087C>G (GYG2P1)
XR_001756061.1:n.609-5668C>G