Canonical Allele Identifier: CA337551589
Gene: AMELY HGNC NCBI

Linked Data

dbSNP Id: rs56244518
gnomAD v3: Y-6897993-T-C
gnomAD v4: Y-6897993-T-C
MyVariant Identifiers: chrY:g.6766034T>C (hg19) chrY:g.6897993T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.6897993T>C , CM000686.2:g.6897993T>C GRCh38
NC_000024.9:g.6766034T>C , CM000686.1:g.6766034T>C GRCh37
NC_000024.8:g.6826034T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000651267.2:c.-113+13680A>G MANE Select ENSP00000498344.1:n.-113+13680A>G
ENST00000651267.1:c.-113+13680A>G ENSP00000498344.1:n.-113+13680A>G
XM_011531472.1:c.-113+13680A>G XP_011529774.1:n.-113+13680A>G
NM_001143.2:c.-113+13680A>G MANE Select NP_001134.1:n.-113+13680A>G
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