Canonical Allele Identifier: CA5579444
Community Standard Title: NM_033100.4(CDHR1):c.152-9T>C
Gene: CDHR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.84196496T>C , CM000672.2:g.84196496T>C GRCh38
NC_000010.10:g.85956252T>C , CM000672.1:g.85956252T>C GRCh37
NC_000010.9:g.85946232T>C NCBI36
NG_028034.1:g.6841T>C

Transcript Alleles

HGVS Amino-acid Change
NM_033100.4:c.152-9T>C MANE Select NP_149091.1:n.152-9T>C
ENST00000623527.4:c.152-9T>C MANE Select ENSP00000485478.1:n.152-9T>C
NM_001171971.2:c.152-9T>C NP_001165442.1:n.152-9T>C
NM_001171971.3:c.152-9T>C NP_001165442.1:n.152-9T>C
NM_033100.3:c.152-9T>C NP_149091.1:n.152-9T>C
ENST00000332904.7:c.152-9T>C ENSP00000331063.3:n.152-9T>C
ENST00000623527.3:c.152-9T>C ENSP00000485478.1:n.152-9T>C
XM_011540337.1:c.326-9T>C XP_011538639.1:n.326-9T>C
XM_011540338.1:c.326-9T>C XP_011538640.1:n.326-9T>C
XM_011540339.1:c.-228-9T>C XP_011538641.1:n.-228-9T>C
XM_011540340.1:c.326-9T>C XP_011538642.1:n.326-9T>C
XM_011540340.3:c.326-9T>C XP_011538642.1:n.326-9T>C