Canonical Allele Identifier: CA653450163
Gene: JCAD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30034992T>A , CM000672.2:g.30034992T>A GRCh38
NC_000010.10:g.30323921T>A , CM000672.1:g.30323921T>A GRCh37
NC_000010.9:g.30363927T>A NCBI36
NG_053080.1:g.85503A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375377.2:c.282-5126A>T MANE Select ENSP00000364526.1:n.282-5126A>T
ENST00000375377.1:c.282-5126A>T ENSP00000364526.1:n.282-5126A>T
NM_020848.2:c.282-5126A>T NP_065899.1:n.282-5126A>T
XM_011519608.1:c.282-5126A>T XP_011517910.1:n.282-5126A>T
XM_011519609.1:c.-133-5126A>T XP_011517911.1:n.-133-5126A>T
XM_011519610.1:c.-133-5126A>T XP_011517912.1:n.-133-5126A>T
NM_001350001.1:c.-133-5126A>T NP_001336930.1:n.-133-5126A>T
NM_001350021.1:c.-133-5126A>T NP_001336950.1:n.-133-5126A>T
NM_001350022.1:c.282-5126A>T NP_001336951.1:n.282-5126A>T
NM_020848.3:c.282-5126A>T NP_065899.1:n.282-5126A>T
NM_020848.4:c.282-5126A>T MANE Select NP_065899.1:n.282-5126A>T
NM_001350001.2:c.-133-5126A>T NP_001336930.1:n.-133-5126A>T
NM_001350021.2:c.-133-5126A>T NP_001336950.1:n.-133-5126A>T
NM_001350022.2:c.282-5126A>T NP_001336951.1:n.282-5126A>T