Canonical Allele Identifier: CA519829533
Gene: GYG2P1 HGNC NCBI
ARSDP1 HGNC NCBI

Linked Data

gnomAD v3: Y-12387274-G-A
gnomAD v4: Y-12387274-G-A
MyVariant Identifiers: chrY:g.14499069G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12387274G>A , CM000686.2:g.12387274G>A GRCh38
NC_000024.9:g.14499069G>A , CM000686.1:g.14499069G>A GRCh37
NC_000024.8:g.13009077G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000382965.3:n.317-8525C>T (GYG2P1)
ENST00000689264.1:n.402-8525C>T (GYG2P1)
ENST00000443820.2:n.1713G>A (ARSDP1)
ENST00000651802.1:n.450+19110C>T (GYG2P1)
ENST00000651835.1:n.319+19522C>T (GYG2P1)
ENST00000382966.5:n.283+19522C>T (GYG2P1)
ENST00000443820.1:n.1161G>A (ARSDP1)
ENST00000493160.5:n.803-3944C>T (GYG2P1)
XR_001756061.1:n.609-8525C>T