Canonical Allele Identifier: CA10571987
Gene: TBL1Y HGNC NCBI
MyVariant.info:
GRCh38 chrY:g.7025052A>C
GRCh37 chrY:g.6893093A>C
gnomAD v2:
Y:6893093 A / C
gnomAD v3:
Y:7025052 A / C
gnomAD v4:
chrY-7025052-A-C
Joint Max Group AF 0.00223915 (AFR)
Genomes Max Group AF 0.00016226 (AFR)
Exomes Max Group AF 0.00441247 (AFR)
dbSNP:
34555473
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7025052A>C , CM000686.2:g.7025052A>C GRCh38
NC_000024.9:g.6893093A>C , CM000686.1:g.6893093A>C GRCh37
NC_000024.8:g.6953093A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000383032.6:c.-33A>C MANE Select ENSP00000372499.1:n.-33A>C
ENST00000346432.3:c.-33A>C ENSP00000328879.4:n.-33A>C
ENST00000355162.6:c.-33A>C ENSP00000347289.2:n.-33A>C
ENST00000383032.5:c.-33A>C ENSP00000372499.1:n.-33A>C
NM_033284.1:c.-33A>C NP_150600.1:n.-33A>C
NM_134258.1:c.-33A>C NP_599020.1:n.-33A>C
NM_134259.1:c.-33A>C NP_599021.1:n.-33A>C
XM_017030086.1:c.-33A>C XP_016885575.1:n.-33A>C
XM_017030087.1:c.-33A>C XP_016885576.1:n.-33A>C
XM_024452497.1:c.-33A>C XP_024308265.1:n.-33A>C
NM_033284.2:c.-33A>C MANE Select NP_150600.1:n.-33A>C
NM_134258.2:c.-33A>C NP_599020.1:n.-33A>C
NM_134259.2:c.-33A>C NP_599021.1:n.-33A>C
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