Canonical Allele Identifier: CA5580239

Gene: CDHR1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.84214496A>G , CM000672.2:g.84214496A>G	GRCh38
NC_000010.10:g.85974252A>G , CM000672.1:g.85974252A>G	GRCh37
NC_000010.9:g.85964232A>G	NCBI36
NG_028034.1:g.24841A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_033100.4:c.2455A>G MANE Select	NP_149091.1:p.Thr819Ala
ENST00000623527.4:c.2455A>G MANE Select	ENSP00000485478.1:p.Thr819Ala
NM_001171971.2:c.2040+1148A>G	NP_001165442.1:n.2040+1148A>G
NM_001171971.3:c.2040+1148A>G	NP_001165442.1:n.2040+1148A>G
NM_033100.3:c.2455A>G	NP_149091.1:p.Thr819Ala
ENST00000332904.7:c.2040+1148A>G	ENSP00000331063.3:n.2040+1148A>G
ENST00000372117.6:c.1670A>G
ENST00000459673.1:n.887A>G
ENST00000623399.1:c.211+1148A>G
ENST00000623527.3:c.2455A>G	ENSP00000485478.1:p.Thr819Ala
XM_011540337.1:c.2629A>G	XP_011538639.1:p.Thr877Ala
XM_011540338.1:c.2214+1148A>G	XP_011538640.1:n.2214+1148A>G
XM_011540339.1:c.2008A>G	XP_011538641.1:p.Thr670Ala