Canonical Allele Identifier: CA5580079

Gene: CDHR1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.84213176A>G , CM000672.2:g.84213176A>G	GRCh38
NC_000010.10:g.85972932A>G , CM000672.1:g.85972932A>G	GRCh37
NC_000010.9:g.85962912A>G	NCBI36
NG_028034.1:g.23521A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_033100.4:c.1868A>G MANE Select	NP_149091.1:p.Asn623Ser
ENST00000623527.4:c.1868A>G MANE Select	ENSP00000485478.1:p.Asn623Ser
NM_001171971.2:c.1868A>G	NP_001165442.1:p.Asn623Ser
NM_001171971.3:c.1868A>G	NP_001165442.1:p.Asn623Ser
NM_033100.3:c.1868A>G	NP_149091.1:p.Asn623Ser
ENST00000332904.7:c.1868A>G	ENSP00000331063.3:p.Asn623Ser
ENST00000372117.6:c.1083A>G
ENST00000459673.1:n.300A>G
ENST00000622973.1:c.486A>G
ENST00000623399.1:c.39A>G
ENST00000623527.3:c.1868A>G	ENSP00000485478.1:p.Asn623Ser
XM_011540337.1:c.2042A>G	XP_011538639.1:p.Asn681Ser
XM_011540338.1:c.2042A>G	XP_011538640.1:p.Asn681Ser
XM_011540339.1:c.1421A>G	XP_011538641.1:p.Asn474Ser
XM_011540340.1:c.*129A>G	XP_011538642.1:n.*129A>G