Canonical Allele Identifier: CA376423079

Gene: JCAD

Linked Data

• MyVariant Identifiers: chr10:g.30316078T>C (hg19) ; chr10:g.30027149T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.30027149T>C , CM000672.2:g.30027149T>C	GRCh38
NC_000010.10:g.30316078T>C , CM000672.1:g.30316078T>C	GRCh37
NC_000010.9:g.30356084T>C	NCBI36
NG_053080.1:g.93346A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000375377.2:c.2999A>G MANE Select	ENSP00000364526.1:p.Gln1000Arg
ENST00000375377.1:c.2999A>G	ENSP00000364526.1:p.Gln1000Arg
NM_020848.2:c.2999A>G	NP_065899.1:p.Gln1000Arg
XM_011519608.1:c.2999A>G	XP_011517910.1:p.Gln1000Arg
XM_011519609.1:c.2585A>G	XP_011517911.1:p.Gln862Arg
XM_011519610.1:c.2585A>G	XP_011517912.1:p.Gln862Arg
NM_001350001.1:c.2585A>G	NP_001336930.1:p.Gln862Arg
NM_001350021.1:c.2585A>G	NP_001336950.1:p.Gln862Arg
NM_001350022.1:c.2999A>G	NP_001336951.1:p.Gln1000Arg
NM_020848.3:c.2999A>G	NP_065899.1:p.Gln1000Arg
NM_020848.4:c.2999A>G MANE Select	NP_065899.1:p.Gln1000Arg
NM_001350001.2:c.2585A>G	NP_001336930.1:p.Gln862Arg
NM_001350021.2:c.2585A>G	NP_001336950.1:p.Gln862Arg
NM_001350022.2:c.2999A>G	NP_001336951.1:p.Gln1000Arg