Canonical Allele Identifier: CA337551802

Linked Data

dbSNP Id: rs112359018
gnomAD v3: Y-6909769-A-G
gnomAD v4: Y-6909769-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.6909769A>G , CM000686.2:g.6909769A>G GRCh38
NC_000024.9:g.6777810A>G , CM000686.1:g.6777810A>G GRCh37
NC_000024.8:g.6837810A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000651267.2:c.-113+1904T>C (AMELY) MANE Select ENSP00000498344.1:n.-113+1904T>C
ENST00000651267.1:c.-113+1904T>C (AMELY) ENSP00000498344.1:n.-113+1904T>C
XM_011531472.1:c.-113+1904T>C (AMELY) XP_011529774.1:n.-113+1904T>C
XM_024452497.1:c.-685A>G (TBL1Y) XP_024308265.1:n.-685A>G
NM_001143.2:c.-113+1904T>C (AMELY) MANE Select NP_001134.1:n.-113+1904T>C