Canonical Allele Identifier: CA2553705524

Gene: AMELY TBL1Y

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.6909816G>A , CM000686.2:g.6909816G>A	GRCh38
NC_000024.9:g.6777857G>A , CM000686.1:g.6777857G>A	GRCh37
NC_000024.8:g.6837857G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000651267.2:c.-113+1857C>T (AMELY) MANE Select	ENSP00000498344.1:n.-113+1857C>T
ENST00000651267.1:c.-113+1857C>T (AMELY)	ENSP00000498344.1:n.-113+1857C>T
XM_011531472.1:c.-113+1857C>T (AMELY)	XP_011529774.1:n.-113+1857C>T
XM_024452497.1:c.-638G>A (TBL1Y)	XP_024308265.1:n.-638G>A
NM_001143.2:c.-113+1857C>T (AMELY) MANE Select	NP_001134.1:n.-113+1857C>T