Canonical Allele Identifier: CA1138828780
Gene: AMELY HGNC NCBI

Linked Data

dbSNP Id: rs2054079189
gnomAD v3: Y-6885388-T-C
gnomAD v4: Y-6885388-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.6885388T>C , CM000686.2:g.6885388T>C GRCh38
NC_000024.9:g.6753429T>C , CM000686.1:g.6753429T>C GRCh37
NC_000024.8:g.6813429T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000651267.2:c.-112-11317A>G MANE Select ENSP00000498344.1:n.-112-11317A>G
ENST00000651267.1:c.-112-11317A>G ENSP00000498344.1:n.-112-11317A>G
XM_011531472.1:c.-112-11317A>G XP_011529774.1:n.-112-11317A>G
NM_001143.2:c.-112-11317A>G MANE Select NP_001134.1:n.-112-11317A>G
Search 100 bp 5'
Search 100 bp 3'