Canonical Allele Identifier: CA337551630
Gene: AMELY HGNC NCBI

Linked Data

dbSNP Id: rs112194431

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.6900224G>C , CM000686.2:g.6900224G>C GRCh38
NC_000024.9:g.6768265G>C , CM000686.1:g.6768265G>C GRCh37
NC_000024.8:g.6828265G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000651267.2:c.-113+11449C>G MANE Select ENSP00000498344.1:n.-113+11449C>G
ENST00000651267.1:c.-113+11449C>G ENSP00000498344.1:n.-113+11449C>G
XM_011531472.1:c.-113+11449C>G XP_011529774.1:n.-113+11449C>G
NM_001143.2:c.-113+11449C>G MANE Select NP_001134.1:n.-113+11449C>G