Canonical Allele Identifier: CA337713903
Gene: ARSDP1 HGNC NCBI
GYG2P1 HGNC NCBI
MyVariant.info:
GRCh38 chrY:g.12365936T>C
GRCh37 chrY:g.14486667T>C
gnomAD v3:
Y:12365936 T / C
gnomAD v4:
chrY-12365936-T-C
Joint Max Group AF 0.17893199 (MID)
Genomes Max Group AF 0.01995189 (AMR)
Exomes Max Group AF 0.17448804 (MID)
dbSNP:
34043621
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12365936T>C , CM000686.2:g.12365936T>C GRCh38
NC_000024.9:g.14486667T>C , CM000686.1:g.14486667T>C GRCh37
NC_000024.8:g.12996675T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000443820.2:n.194-4T>C (ARSDP1)
ENST00000651802.1:n.450+40448A>G (GYG2P1)
ENST00000651835.1:n.319+40860A>G (GYG2P1)
ENST00000382966.5:n.284-11165A>G (GYG2P1)
ENST00000443820.1:n.194-4T>C (ARSDP1)
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