Canonical Allele Identifier: CA5579972

Gene: CDHR1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.84211721T>C , CM000672.2:g.84211721T>C	GRCh38
NC_000010.10:g.85971477T>C , CM000672.1:g.85971477T>C	GRCh37
NC_000010.9:g.85961457T>C	NCBI36
NG_028034.1:g.22066T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_033100.4:c.1553+6T>C MANE Select	NP_149091.1:n.1553+6T>C
ENST00000623527.4:c.1553+6T>C MANE Select	ENSP00000485478.1:n.1553+6T>C
NM_001171971.2:c.1553+6T>C	NP_001165442.1:n.1553+6T>C
NM_001171971.3:c.1553+6T>C	NP_001165442.1:n.1553+6T>C
NM_033100.3:c.1553+6T>C	NP_149091.1:n.1553+6T>C
ENST00000332904.7:c.1553+6T>C	ENSP00000331063.3:n.1553+6T>C
ENST00000372117.6:c.768+6T>C
ENST00000622973.1:c.286+6T>C
ENST00000623527.3:c.1553+6T>C	ENSP00000485478.1:n.1553+6T>C
XM_011540337.1:c.1727+6T>C	XP_011538639.1:n.1727+6T>C
XM_011540338.1:c.1727+6T>C	XP_011538640.1:n.1727+6T>C
XM_011540339.1:c.1106+6T>C	XP_011538641.1:n.1106+6T>C
XM_011540340.1:c.1727+6T>C	XP_011538642.1:n.1727+6T>C
XM_011540340.3:c.1727+6T>C	XP_011538642.1:n.1727+6T>C