Canonical Allele Identifier: CA5579559
Community Standard Title: NM_033100.4(CDHR1):c.525+1G>A
Gene: CDHR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.84200688G>A , CM000672.2:g.84200688G>A GRCh38
NC_000010.10:g.85960444G>A , CM000672.1:g.85960444G>A GRCh37
NC_000010.9:g.85950424G>A NCBI36
NG_028034.1:g.11033G>A

Transcript Alleles

HGVS Amino-acid Change
NM_033100.4:c.525+1G>A MANE Select NP_149091.1:n.525+1G>A
ENST00000623527.4:c.525+1G>A MANE Select ENSP00000485478.1:n.525+1G>A
NM_001171971.2:c.525+1G>A NP_001165442.1:n.525+1G>A
NM_001171971.3:c.525+1G>A NP_001165442.1:n.525+1G>A
NM_033100.3:c.525+1G>A NP_149091.1:n.525+1G>A
ENST00000332904.7:c.525+1G>A ENSP00000331063.3:n.525+1G>A
ENST00000623527.3:c.525+1G>A ENSP00000485478.1:n.525+1G>A
XM_011540337.1:c.699+1G>A XP_011538639.1:n.699+1G>A
XM_011540338.1:c.699+1G>A XP_011538640.1:n.699+1G>A
XM_011540339.1:c.146+1G>A XP_011538641.1:n.146+1G>A
XM_011540340.1:c.699+1G>A XP_011538642.1:n.699+1G>A
XM_011540340.3:c.699+1G>A XP_011538642.1:n.699+1G>A