Canonical Allele Identifier: CA337574312
Gene: TBL1Y HGNC NCBI
MyVariant.info:
GRCh38 chrY:g.7097174C>T
GRCh37 chrY:g.6965215C>T
gnomAD v3:
Y:7097174 C / T
gnomAD v4:
chrY-7097174-C-T
Joint Max Group AF 0.66215495 (AFR)
Genomes Max Group AF 0.66215495 (AFR)
dbSNP:
16981311
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7097174C>T , CM000686.2:g.7097174C>T GRCh38
NC_000024.9:g.6965215C>T , CM000686.1:g.6965215C>T GRCh37
NC_000024.8:g.7025215C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651523.1:c.306-3611C>T
XM_017030086.1:c.1549-3611C>T XP_016885575.1:n.1549-3611C>T
XM_017030087.1:c.1549-3611C>T XP_016885576.1:n.1549-3611C>T
XM_024452497.1:c.1549-3611C>T XP_024308265.1:n.1549-3611C>T
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