Canonical Allele Identifier: CA1138828383
Gene: AMELY HGNC NCBI

Linked Data

gnomAD v3: Y-6885259-C-G
gnomAD v4: Y-6885259-C-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.6885259C>G , CM000686.2:g.6885259C>G GRCh38
NC_000024.9:g.6753300C>G , CM000686.1:g.6753300C>G GRCh37
NC_000024.8:g.6813300C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000651267.2:c.-112-11188G>C MANE Select ENSP00000498344.1:n.-112-11188G>C
ENST00000651267.1:c.-112-11188G>C ENSP00000498344.1:n.-112-11188G>C
XM_011531472.1:c.-112-11188G>C XP_011529774.1:n.-112-11188G>C
NM_001143.2:c.-112-11188G>C MANE Select NP_001134.1:n.-112-11188G>C
Search 100 bp 5'
Search 100 bp 3'