Canonical Allele Identifier: CA235798
Community Standard Title: NM_033100.4(CDHR1):c.476C>A (p.Ala159Glu)
Gene: CDHR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.84200638C>A , CM000672.2:g.84200638C>A GRCh38
NC_000010.10:g.85960394C>A , CM000672.1:g.85960394C>A GRCh37
NC_000010.9:g.85950374C>A NCBI36
NG_028034.1:g.10983C>A

Transcript Alleles

HGVS Amino-acid Change
NM_033100.4:c.476C>A MANE Select NP_149091.1:p.Ala159Glu
ENST00000623527.4:c.476C>A MANE Select ENSP00000485478.1:p.Ala159Glu
NM_001171971.2:c.476C>A NP_001165442.1:p.Ala159Glu
NM_001171971.3:c.476C>A NP_001165442.1:p.Ala159Glu
NM_033100.3:c.476C>A NP_149091.1:p.Ala159Glu
ENST00000332904.7:c.476C>A ENSP00000331063.3:p.Ala159Glu
ENST00000623527.3:c.476C>A ENSP00000485478.1:p.Ala159Glu
XM_011540337.1:c.650C>A XP_011538639.1:p.Ala217Glu
XM_011540338.1:c.650C>A XP_011538640.1:p.Ala217Glu
XM_011540339.1:c.97C>A XP_011538641.1:p.Gln33Lys
XM_011540340.1:c.650C>A XP_011538642.1:p.Ala217Glu
XM_011540340.3:c.650C>A XP_011538642.1:p.Ala217Glu