Canonical Allele Identifier: CA519824140
Gene: GYG2P1 HGNC NCBI
ARSDP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrY:g.14496137C>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12384334C>G , CM000686.2:g.12384334C>G GRCh38
NC_000024.9:g.14496137C>G , CM000686.1:g.14496137C>G GRCh37
NC_000024.8:g.13006145C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000382965.3:n.317-5585G>C (GYG2P1)
ENST00000689264.1:n.402-5585G>C (GYG2P1)
ENST00000443820.2:n.1312C>G (ARSDP1)
ENST00000651802.1:n.450+22050G>C (GYG2P1)
ENST00000651835.1:n.319+22462G>C (GYG2P1)
ENST00000382966.5:n.283+22462G>C (GYG2P1)
ENST00000443820.1:n.760C>G (ARSDP1)
ENST00000493160.5:n.803-1004G>C (GYG2P1)
XR_001756061.1:n.609-5585G>C
Search 100 bp 5'
Search 100 bp 3'