Canonical Allele Identifier: CA1899187578
Gene: JCAD HGNC NCBI

Linked Data

dbSNP Id: rs145745933

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30035030G>T , CM000672.2:g.30035030G>T GRCh38
NC_000010.10:g.30323959G>T , CM000672.1:g.30323959G>T GRCh37
NC_000010.9:g.30363965G>T NCBI36
NG_053080.1:g.85465C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375377.2:c.282-5164C>A MANE Select ENSP00000364526.1:n.282-5164C>A
ENST00000375377.1:c.282-5164C>A ENSP00000364526.1:n.282-5164C>A
NM_020848.2:c.282-5164C>A NP_065899.1:n.282-5164C>A
XM_011519608.1:c.282-5164C>A XP_011517910.1:n.282-5164C>A
XM_011519609.1:c.-133-5164C>A XP_011517911.1:n.-133-5164C>A
XM_011519610.1:c.-133-5164C>A XP_011517912.1:n.-133-5164C>A
NM_001350001.1:c.-133-5164C>A NP_001336930.1:n.-133-5164C>A
NM_001350021.1:c.-133-5164C>A NP_001336950.1:n.-133-5164C>A
NM_001350022.1:c.282-5164C>A NP_001336951.1:n.282-5164C>A
NM_020848.3:c.282-5164C>A NP_065899.1:n.282-5164C>A
NM_020848.4:c.282-5164C>A MANE Select NP_065899.1:n.282-5164C>A
NM_001350001.2:c.-133-5164C>A NP_001336930.1:n.-133-5164C>A
NM_001350021.2:c.-133-5164C>A NP_001336950.1:n.-133-5164C>A
NM_001350022.2:c.282-5164C>A NP_001336951.1:n.282-5164C>A