Canonical Allele Identifier: CA519828682
Gene: GYG2P1 HGNC NCBI
ARSDP1 HGNC NCBI

Linked Data

dbSNP Id: rs2148267375
MyVariant Identifiers: chrY:g.14498997T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12387202T>C , CM000686.2:g.12387202T>C GRCh38
NC_000024.9:g.14498997T>C , CM000686.1:g.14498997T>C GRCh37
NC_000024.8:g.13009005T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000382965.3:n.317-8453A>G (GYG2P1)
ENST00000689264.1:n.402-8453A>G (GYG2P1)
ENST00000443820.2:n.1641T>C (ARSDP1)
ENST00000651802.1:n.450+19182A>G (GYG2P1)
ENST00000651835.1:n.319+19594A>G (GYG2P1)
ENST00000382966.5:n.283+19594A>G (GYG2P1)
ENST00000443820.1:n.1089T>C (ARSDP1)
ENST00000493160.5:n.803-3872A>G (GYG2P1)
XR_001756061.1:n.609-8453A>G