Canonical Allele Identifier: CA406473767
Community Standard Title: NM_005184.4(CALM3):c.421G>A (p.Glu141Lys)
Gene: CALM3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.46608981G>A , CM000681.2:g.46608981G>A GRCh38
NC_000019.9:g.47112238G>A , CM000681.1:g.47112238G>A GRCh37
NC_000019.8:g.51804078G>A NCBI36
NG_051331.1:g.12908G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005184.4:c.421G>A MANE Select NP_005175.2:p.Glu141Lys
ENST00000291295.14:c.421G>A MANE Select ENSP00000291295.8:p.Glu141Lys
NM_001329921.1:c.313G>A NP_001316850.1:p.Glu105Lys
NM_001329922.1:c.421G>A NP_001316851.1:p.Glu141Lys
NM_001329923.1:c.313G>A NP_001316852.1:p.Glu105Lys
NM_001329924.1:c.313G>A NP_001316853.1:p.Glu105Lys
NM_001329924.2:c.313G>A NP_001316853.1:p.Glu105Lys
NM_001329925.1:c.313G>A NP_001316854.1:p.Glu105Lys
NM_001329925.2:c.313G>A NP_001316854.1:p.Glu105Lys
NM_001329926.1:c.313G>A NP_001316855.1:p.Glu105Lys
NM_001329926.2:c.313G>A NP_001316855.1:p.Glu105Lys
NM_005184.2:c.421G>A NP_005175.2:p.Glu141Lys
NM_005184.3:c.421G>A NP_005175.2:p.Glu141Lys
ENST00000291295.13:c.421G>A ENSP00000291295.8:p.Glu141Lys
ENST00000391918.6:c.313G>A ENSP00000375785.2:p.Glu105Lys
ENST00000477244.5:n.545G>A
ENST00000482455.5:n.531G>A
ENST00000486500.1:n.879G>A
ENST00000594523.5:c.313G>A ENSP00000468877.1:p.Glu105Lys
ENST00000595072.1:n.611G>A
ENST00000595072.2:n.2850G>A
ENST00000596362.1:c.421G>A ENSP00000472141.1:p.Glu141Lys
ENST00000597743.5:c.223G>A ENSP00000470308.1:p.Glu75Lys
ENST00000597868.5:n.746G>A
ENST00000598871.5:c.313G>A ENSP00000470502.1:p.Glu105Lys
ENST00000599839.5:c.313G>A ENSP00000471225.1:p.Glu105Lys
ENST00000602169.2:c.*457G>A ENSP00000499372.1:n.*457G>A