Canonical Allele Identifier: CA8220590

Gene: JPH3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.87603300G>A , CM000678.2:g.87603300G>A	GRCh38
NC_000016.9:g.87636906G>A , CM000678.1:g.87636906G>A	GRCh37
NC_000016.8:g.86194407G>A	NCBI36
NG_009797.1:g.5408G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284262.3:c.154G>A MANE Select	ENSP00000284262.2:p.Val52Ile
ENST00000284262.2:c.154G>A	ENSP00000284262.2:p.Val52Ile
ENST00000301008.5:n.414G>A
ENST00000537256.5:n.96+1370G>A
NM_001271604.2:c.154G>A	NP_001258533.1:p.Val52Ile
NM_001271605.1:c.154G>A	NP_001258534.1:p.Val52Ile
NM_020655.3:c.154G>A	NP_065706.2:p.Val52Ile
NR_073379.2:n.96+1370G>A
NM_020655.4:c.154G>A MANE Select	NP_065706.2:p.Val52Ile
NM_001271604.3:c.154G>A	NP_001258533.1:p.Val52Ile
NM_001271605.2:c.154G>A	NP_001258534.1:p.Val52Ile
NM_001271604.4:c.154G>A	NP_001258533.1:p.Val52Ile
NM_001271605.3:c.154G>A	NP_001258534.1:p.Val52Ile
NR_073379.3:n.96+1370G>A