Canonical Allele Identifier: CA376423072

Gene: JCAD

Linked Data

• MyVariant Identifiers: chr10:g.30316075T>G (hg19) ; chr10:g.30027146T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.30027146T>G , CM000672.2:g.30027146T>G	GRCh38
NC_000010.10:g.30316075T>G , CM000672.1:g.30316075T>G	GRCh37
NC_000010.9:g.30356081T>G	NCBI36
NG_053080.1:g.93349A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375377.2:c.3002A>C MANE Select	ENSP00000364526.1:p.Glu1001Ala
ENST00000375377.1:c.3002A>C	ENSP00000364526.1:p.Glu1001Ala
NM_020848.2:c.3002A>C	NP_065899.1:p.Glu1001Ala
XM_011519608.1:c.3002A>C	XP_011517910.1:p.Glu1001Ala
XM_011519609.1:c.2588A>C	XP_011517911.1:p.Glu863Ala
XM_011519610.1:c.2588A>C	XP_011517912.1:p.Glu863Ala
NM_001350001.1:c.2588A>C	NP_001336930.1:p.Glu863Ala
NM_001350021.1:c.2588A>C	NP_001336950.1:p.Glu863Ala
NM_001350022.1:c.3002A>C	NP_001336951.1:p.Glu1001Ala
NM_020848.3:c.3002A>C	NP_065899.1:p.Glu1001Ala
NM_020848.4:c.3002A>C MANE Select	NP_065899.1:p.Glu1001Ala
NM_001350001.2:c.2588A>C	NP_001336930.1:p.Glu863Ala
NM_001350021.2:c.2588A>C	NP_001336950.1:p.Glu863Ala
NM_001350022.2:c.3002A>C	NP_001336951.1:p.Glu1001Ala