Canonical Allele Identifier: CA337625762
Gene:
MyVariant.info:
GRCh38 chrY:g.8722711C>T
GRCh37 chrY:g.8590752C>T
gnomAD v3:
Y:8722711 C / T
gnomAD v4:
chrY-8722711-C-T
Joint Max Group AF 0.26026465 (MID)
Genomes Max Group AF 0.23020881 (NFE)
dbSNP:
7892893
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.8722711C>T , CM000686.2:g.8722711C>T GRCh38
NC_000024.9:g.8590752C>T , CM000686.1:g.8590752C>T GRCh37
NC_000024.8:g.8650752C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000623558.1:c.196+384C>T ENSP00000485446.1:n.196+384C>T
ENST00000624237.1:c.63+11759C>T ENSP00000485137.1:n.63+11759C>T
ENST00000624593.1:c.-57+26005G>A ENSP00000485106.1:n.-57+26005G>A
XR_938653.1:n.40-85G>A
XR_938654.1:n.189-85G>A
XR_938654.2:n.189-85G>A
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