Canonical Allele Identifier: CA5579924

Gene: CDHR1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.84211053T>A , CM000672.2:g.84211053T>A	GRCh38
NC_000010.10:g.85970809T>A , CM000672.1:g.85970809T>A	GRCh37
NC_000010.9:g.85960789T>A	NCBI36
NG_028034.1:g.21398T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_033100.4:c.1373T>A MANE Select	NP_149091.1:p.Val458Asp
ENST00000623527.4:c.1373T>A MANE Select	ENSP00000485478.1:p.Val458Asp
NM_001171971.2:c.1373T>A	NP_001165442.1:p.Val458Asp
NM_001171971.3:c.1373T>A	NP_001165442.1:p.Val458Asp
NM_033100.3:c.1373T>A	NP_149091.1:p.Val458Asp
ENST00000332904.7:c.1373T>A	ENSP00000331063.3:p.Val458Asp
ENST00000372117.6:c.701-595T>A
ENST00000622973.1:c.106T>A
ENST00000623527.3:c.1373T>A	ENSP00000485478.1:p.Val458Asp
XM_011540337.1:c.1547T>A	XP_011538639.1:p.Val516Asp
XM_011540338.1:c.1547T>A	XP_011538640.1:p.Val516Asp
XM_011540339.1:c.926T>A	XP_011538641.1:p.Val309Asp
XM_011540340.1:c.1547T>A	XP_011538642.1:p.Val516Asp
XM_011540340.3:c.1547T>A	XP_011538642.1:p.Val516Asp