Canonical Allele Identifier: CA16620863
Gene: CALM3 HGNC NCBI

Linked Data

ClinVar Variation Id: 423164
ClinVar RCV Id: RCV000484148
dbSNP Id: rs1064796271
MyVariant Identifiers: chr19:g.47112213T>A (hg19) chr19:g.46608956T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.46608956T>A , CM000681.2:g.46608956T>A GRCh38
NC_000019.9:g.47112213T>A , CM000681.1:g.47112213T>A GRCh37
NC_000019.8:g.51804053T>A NCBI36
NG_051331.1:g.12883T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000291295.14:c.396T>A MANE Select ENSP00000291295.8:p.Asp132Glu
ENST00000595072.2:n.2825T>A
ENST00000602169.2:c.*432T>A ENSP00000499372.1:n.*432T>A
ENST00000291295.13:c.396T>A ENSP00000291295.8:p.Asp132Glu
ENST00000391918.6:c.288T>A ENSP00000375785.2:p.Asp96Glu
ENST00000477244.5:n.520T>A
ENST00000482455.5:n.506T>A
ENST00000486500.1:n.854T>A
ENST00000594523.5:c.288T>A ENSP00000468877.1:p.Asp96Glu
ENST00000595072.1:n.586T>A
ENST00000596362.1:c.396T>A ENSP00000472141.1:p.Asp132Glu
ENST00000597743.5:c.198T>A ENSP00000470308.1:p.Asp66Glu
ENST00000597868.5:n.721T>A
ENST00000598871.5:c.288T>A ENSP00000470502.1:p.Asp96Glu
ENST00000599839.5:c.288T>A ENSP00000471225.1:p.Asp96Glu
NM_005184.2:c.396T>A NP_005175.2:p.Asp132Glu
NM_001329921.1:c.288T>A NP_001316850.1:p.Asp96Glu
NM_001329922.1:c.396T>A NP_001316851.1:p.Asp132Glu
NM_001329923.1:c.288T>A NP_001316852.1:p.Asp96Glu
NM_001329924.1:c.288T>A NP_001316853.1:p.Asp96Glu
NM_001329925.1:c.288T>A NP_001316854.1:p.Asp96Glu
NM_001329926.1:c.288T>A NP_001316855.1:p.Asp96Glu
NM_005184.3:c.396T>A NP_005175.2:p.Asp132Glu
NM_001329924.2:c.288T>A NP_001316853.1:p.Asp96Glu
NM_001329925.2:c.288T>A NP_001316854.1:p.Asp96Glu
NM_001329926.2:c.288T>A NP_001316855.1:p.Asp96Glu
NM_005184.4:c.396T>A MANE Select NP_005175.2:p.Asp132Glu
Search 100 bp 5'
Search 100 bp 3'