Canonical Allele Identifier: CA337551802
Gene: AMELY HGNC NCBI
TBL1Y HGNC NCBI
MyVariant.info:
GRCh38 chrY:g.6909769A>G
GRCh37 chrY:g.6777810A>G
gnomAD v3:
Y:6909769 A / G
gnomAD v4:
chrY-6909769-A-G
Joint Max Group AF 0.00194939 (AFR)
Genomes Max Group AF 0.00194939 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.6909769A>G , CM000686.2:g.6909769A>G GRCh38
NC_000024.9:g.6777810A>G , CM000686.1:g.6777810A>G GRCh37
NC_000024.8:g.6837810A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651267.2:c.-113+1904T>C (AMELY) MANE Select ENSP00000498344.1:n.-113+1904T>C
ENST00000651267.1:c.-113+1904T>C (AMELY) ENSP00000498344.1:n.-113+1904T>C
XM_011531472.1:c.-113+1904T>C (AMELY) XP_011529774.1:n.-113+1904T>C
XM_024452497.1:c.-685A>G (TBL1Y) XP_024308265.1:n.-685A>G
NM_001143.2:c.-113+1904T>C (AMELY) MANE Select NP_001134.1:n.-113+1904T>C
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