Canonical Allele Identifier: CA519827368
Gene: GYG2P1 HGNC NCBI
ARSDP1 HGNC NCBI

Linked Data

dbSNP Id: rs2053262005
gnomAD v3: Y-12387106-C-T
gnomAD v4: Y-12387106-C-T
MyVariant Identifiers: chrY:g.14498901C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12387106C>T , CM000686.2:g.12387106C>T GRCh38
NC_000024.9:g.14498901C>T , CM000686.1:g.14498901C>T GRCh37
NC_000024.8:g.13008909C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000382965.3:n.317-8357G>A (GYG2P1)
ENST00000689264.1:n.402-8357G>A (GYG2P1)
ENST00000443820.2:n.1545C>T (ARSDP1)
ENST00000651802.1:n.450+19278G>A (GYG2P1)
ENST00000651835.1:n.319+19690G>A (GYG2P1)
ENST00000382966.5:n.283+19690G>A (GYG2P1)
ENST00000443820.1:n.993C>T (ARSDP1)
ENST00000493160.5:n.803-3776G>A (GYG2P1)
XR_001756061.1:n.609-8357G>A
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