Canonical Allele Identifier: CA337551276
Gene: AMELY HGNC NCBI

Linked Data

dbSNP Id: rs72617687
gnomAD v3: Y-6885217-T-G
gnomAD v4: Y-6885217-T-G
MyVariant Identifiers: chrY:g.6885217T>G (hg38)

Genomic Alleles

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

Transcript Alleles

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