Canonical Allele Identifier: CA337551275
Gene: AMELY HGNC NCBI
MyVariant.info:
GRCh38 chrY:g.6885217T>C
GRCh37 chrY:g.6753258T>C
gnomAD v3:
Y:6885217 T / C
gnomAD v4:
chrY-6885217-T-C
Joint Max Group AF 0.75318609 (EAS)
Genomes Max Group AF 0.75318609 (EAS)
dbSNP:
72617687
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.6885217T>C , CM000686.2:g.6885217T>C GRCh38
NC_000024.9:g.6753258T>C , CM000686.1:g.6753258T>C GRCh37
NC_000024.8:g.6813258T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651267.2:c.-112-11146A>G MANE Select ENSP00000498344.1:n.-112-11146A>G
ENST00000651267.1:c.-112-11146A>G ENSP00000498344.1:n.-112-11146A>G
XM_011531472.1:c.-112-11146A>G XP_011529774.1:n.-112-11146A>G
NM_001143.2:c.-112-11146A>G MANE Select NP_001134.1:n.-112-11146A>G
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