Canonical Allele Identifier: CA337714058

Gene: GYG2P1 ARSDP1

Linked Data

• dbSNP Id: rs757800327
• gnomAD v3: Y-12384644-T-G
• gnomAD v4: Y-12384644-T-G
• MyVariant Identifiers: chrY:g.14496439T>G (hg19) ; chrY:g.12384644T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.12384644T>G , CM000686.2:g.12384644T>G	GRCh38
NC_000024.9:g.14496439T>G , CM000686.1:g.14496439T>G	GRCh37
NC_000024.8:g.13006447T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382965.3:n.317-5895A>C (GYG2P1)
ENST00000689264.1:n.402-5895A>C (GYG2P1)
ENST00000443820.2:n.1408+214T>G (ARSDP1)
ENST00000651802.1:n.450+21740A>C (GYG2P1)
ENST00000651835.1:n.319+22152A>C (GYG2P1)
ENST00000382966.5:n.283+22152A>C (GYG2P1)
ENST00000443820.1:n.856+214T>G (ARSDP1)
ENST00000493160.5:n.803-1314A>C (GYG2P1)
XR_001756061.1:n.609-5895A>C