Canonical Allele Identifier: CA337626012
Gene:
MyVariant.info:
GRCh38 chrY:g.8734374T>C
GRCh37 chrY:g.8602415T>C
gnomAD v3:
Y:8734374 T / C
gnomAD v4:
chrY-8734374-T-C
Joint Max Group AF 0.69630004 (AFR)
Genomes Max Group AF 0.69630004 (AFR)
dbSNP:
16981340
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.8734374T>C , CM000686.2:g.8734374T>C GRCh38
NC_000024.9:g.8602415T>C , CM000686.1:g.8602415T>C GRCh37
NC_000024.8:g.8662415T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000623558.1:c.197-5456T>C ENSP00000485446.1:n.197-5456T>C
ENST00000624237.1:c.64-7681T>C ENSP00000485137.1:n.64-7681T>C
ENST00000624593.1:c.-57+14342A>G ENSP00000485106.1:n.-57+14342A>G
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