Canonical Allele Identifier: CA337551275

Gene: AMELY

Linked Data

• dbSNP Id: rs72617687
• gnomAD v3: Y-6885217-T-C
• gnomAD v4: Y-6885217-T-C
• MyVariant Identifiers: chrY:g.6753258T>C (hg19) ; chrY:g.6885217T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.6885217T>C , CM000686.2:g.6885217T>C	GRCh38
NC_000024.9:g.6753258T>C , CM000686.1:g.6753258T>C	GRCh37
NC_000024.8:g.6813258T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000651267.2:c.-112-11146A>G MANE Select	ENSP00000498344.1:n.-112-11146A>G
ENST00000651267.1:c.-112-11146A>G	ENSP00000498344.1:n.-112-11146A>G
XM_011531472.1:c.-112-11146A>G	XP_011529774.1:n.-112-11146A>G
NM_001143.2:c.-112-11146A>G MANE Select	NP_001134.1:n.-112-11146A>G