Canonical Allele Identifier: CA337623251
Gene:
MyVariant.info:
GRCh38 chrY:g.8606148C>A
GRCh37 chrY:g.8474189C>A
gnomAD v3:
Y:8606148 C / A
gnomAD v4:
chrY-8606148-C-A
Joint Max Group AF 0.70067499 (AFR)
Genomes Max Group AF 0.70067499 (AFR)
dbSNP:
9306848
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.8606148C>A , CM000686.2:g.8606148C>A GRCh38
NC_000024.9:g.8474189C>A , CM000686.1:g.8474189C>A GRCh37
NC_000024.8:g.8534189C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000624507.1:c.53-1117G>T ENSP00000485522.1:n.53-1117G>T
ENST00000624593.1:c.92+16704G>T ENSP00000485106.1:n.92+16704G>T
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