Canonical Allele Identifier: CA337554967
Gene: TBL1Y HGNC NCBI

Linked Data

dbSNP Id: rs111842458
gnomAD v3: Y-6999742-C-G
gnomAD v4: Y-6999742-C-G
MyVariant Identifiers: chrY:g.6867783C>G (hg19) chrY:g.6999742C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.6999742C>G , CM000686.2:g.6999742C>G GRCh38
NC_000024.9:g.6867783C>G , CM000686.1:g.6867783C>G GRCh37
NC_000024.8:g.6927783C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000383032.6:c.-140+3844C>G MANE Select ENSP00000372499.1:n.-140+3844C>G
ENST00000346432.3:c.-140+21499C>G ENSP00000328879.4:n.-140+21499C>G
ENST00000355162.6:c.-140+3844C>G ENSP00000347289.2:n.-140+3844C>G
ENST00000383032.5:c.-140+3844C>G ENSP00000372499.1:n.-140+3844C>G
NM_033284.1:c.-140+3844C>G NP_150600.1:n.-140+3844C>G
NM_134258.1:c.-140+3844C>G NP_599020.1:n.-140+3844C>G
NM_134259.1:c.-140+21499C>G NP_599021.1:n.-140+21499C>G
XM_017030086.1:c.-140+3844C>G XP_016885575.1:n.-140+3844C>G
XM_017030087.1:c.-140+3844C>G XP_016885576.1:n.-140+3844C>G
XM_024452497.1:c.-140+3844C>G XP_024308265.1:n.-140+3844C>G
NM_033284.2:c.-140+3844C>G MANE Select NP_150600.1:n.-140+3844C>G
NM_134258.2:c.-140+3844C>G NP_599020.1:n.-140+3844C>G
NM_134259.2:c.-140+21499C>G NP_599021.1:n.-140+21499C>G
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