Canonical Allele Identifier: CA337623057
Gene:
MyVariant.info:
GRCh38 chrY:g.8599012G>A
GRCh37 chrY:g.8467053G>A
gnomAD v3:
Y:8599012 G / A
gnomAD v4:
chrY-8599012-G-A
Joint Max Group AF 0.19480382 (AFR)
Genomes Max Group AF 0.19480382 (AFR)
dbSNP:
7067418
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.8599012G>A , CM000686.2:g.8599012G>A GRCh38
NC_000024.9:g.8467053G>A , CM000686.1:g.8467053G>A GRCh37
NC_000024.8:g.8527053G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000624507.1:c.89+5983C>T ENSP00000485522.1:n.89+5983C>T
ENST00000624593.1:c.93-20389C>T ENSP00000485106.1:n.93-20389C>T
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