Canonical Allele Identifier: CA5458215

Gene: JCAD

Linked Data

• ClinVar Variation Id: 3112271
• ClinVar RCV Id: RCV004401199
• dbSNP Id: rs190067899
• ExAC: 10:30316081 G / A
• gnomAD v2: 10-30316081-G-A
• gnomAD v3: 10-30027152-G-A
• gnomAD v4: 10-30027152-G-A
• MyVariant Identifiers: chr10:g.30316081G>A (hg19) ; chr10:g.30027152G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.30027152G>A , CM000672.2:g.30027152G>A	GRCh38
NC_000010.10:g.30316081G>A , CM000672.1:g.30316081G>A	GRCh37
NC_000010.9:g.30356087G>A	NCBI36
NG_053080.1:g.93343C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375377.2:c.2996C>T MANE Select	ENSP00000364526.1:p.Pro999Leu
ENST00000375377.1:c.2996C>T	ENSP00000364526.1:p.Pro999Leu
NM_020848.2:c.2996C>T	NP_065899.1:p.Pro999Leu
XM_011519608.1:c.2996C>T	XP_011517910.1:p.Pro999Leu
XM_011519609.1:c.2582C>T	XP_011517911.1:p.Pro861Leu
XM_011519610.1:c.2582C>T	XP_011517912.1:p.Pro861Leu
NM_001350001.1:c.2582C>T	NP_001336930.1:p.Pro861Leu
NM_001350021.1:c.2582C>T	NP_001336950.1:p.Pro861Leu
NM_001350022.1:c.2996C>T	NP_001336951.1:p.Pro999Leu
NM_020848.3:c.2996C>T	NP_065899.1:p.Pro999Leu
NM_020848.4:c.2996C>T MANE Select	NP_065899.1:p.Pro999Leu
NM_001350001.2:c.2582C>T	NP_001336930.1:p.Pro861Leu
NM_001350021.2:c.2582C>T	NP_001336950.1:p.Pro861Leu
NM_001350022.2:c.2996C>T	NP_001336951.1:p.Pro999Leu