Canonical Allele Identifier: CA2505323582

Gene: AMELY TBL1Y

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.6909784C>A , CM000686.2:g.6909784C>A	GRCh38
NC_000024.9:g.6777825C>A , CM000686.1:g.6777825C>A	GRCh37
NC_000024.8:g.6837825C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000651267.2:c.-113+1889G>T (AMELY) MANE Select	ENSP00000498344.1:n.-113+1889G>T
ENST00000651267.1:c.-113+1889G>T (AMELY)	ENSP00000498344.1:n.-113+1889G>T
XM_011531472.1:c.-113+1889G>T (AMELY)	XP_011529774.1:n.-113+1889G>T
XM_024452497.1:c.-670C>A (TBL1Y)	XP_024308265.1:n.-670C>A
NM_001143.2:c.-113+1889G>T (AMELY) MANE Select	NP_001134.1:n.-113+1889G>T