Canonical Allele Identifier: CA1899192429
Gene: JCAD HGNC NCBI

Linked Data

dbSNP Id: rs2505083

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30046193T>A , CM000672.2:g.30046193T>A GRCh38
NC_000010.10:g.30335122T>A , CM000672.1:g.30335122T>A GRCh37
NC_000010.9:g.30375128T>A NCBI36
NG_053080.1:g.74302A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000375377.2:c.281+1339A>T MANE Select ENSP00000364526.1:n.281+1339A>T
ENST00000375377.1:c.281+1339A>T ENSP00000364526.1:n.281+1339A>T
NM_020848.2:c.281+1339A>T NP_065899.1:n.281+1339A>T
XM_011519608.1:c.281+1339A>T XP_011517910.1:n.281+1339A>T
XM_011519609.1:c.-174+1339A>T XP_011517911.1:n.-174+1339A>T
XM_011519610.1:c.-174+1339A>T XP_011517912.1:n.-174+1339A>T
NM_001350001.1:c.-174+1339A>T NP_001336930.1:n.-174+1339A>T
NM_001350021.1:c.-174+1339A>T NP_001336950.1:n.-174+1339A>T
NM_001350022.1:c.281+1339A>T NP_001336951.1:n.281+1339A>T
NM_020848.3:c.281+1339A>T NP_065899.1:n.281+1339A>T
NM_020848.4:c.281+1339A>T MANE Select NP_065899.1:n.281+1339A>T
NM_001350001.2:c.-174+1339A>T NP_001336930.1:n.-174+1339A>T
NM_001350021.2:c.-174+1339A>T NP_001336950.1:n.-174+1339A>T
NM_001350022.2:c.281+1339A>T NP_001336951.1:n.281+1339A>T