Canonical Allele Identifier: CA406473547
Community Standard Title: NM_005184.4(CALM3):c.390C>G (p.Asp130Glu)
Gene: CALM3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.46608950C>G , CM000681.2:g.46608950C>G GRCh38
NC_000019.9:g.47112207C>G , CM000681.1:g.47112207C>G GRCh37
NC_000019.8:g.51804047C>G NCBI36
NG_051331.1:g.12877C>G

Transcript Alleles

HGVS Amino-acid Change
NM_005184.4:c.390C>G MANE Select NP_005175.2:p.Asp130Glu
ENST00000291295.14:c.390C>G MANE Select ENSP00000291295.8:p.Asp130Glu
NM_001329921.1:c.282C>G NP_001316850.1:p.Asp94Glu
NM_001329922.1:c.390C>G NP_001316851.1:p.Asp130Glu
NM_001329923.1:c.282C>G NP_001316852.1:p.Asp94Glu
NM_001329924.1:c.282C>G NP_001316853.1:p.Asp94Glu
NM_001329924.2:c.282C>G NP_001316853.1:p.Asp94Glu
NM_001329925.1:c.282C>G NP_001316854.1:p.Asp94Glu
NM_001329925.2:c.282C>G NP_001316854.1:p.Asp94Glu
NM_001329926.1:c.282C>G NP_001316855.1:p.Asp94Glu
NM_001329926.2:c.282C>G NP_001316855.1:p.Asp94Glu
NM_005184.2:c.390C>G NP_005175.2:p.Asp130Glu
NM_005184.3:c.390C>G NP_005175.2:p.Asp130Glu
ENST00000291295.13:c.390C>G ENSP00000291295.8:p.Asp130Glu
ENST00000391918.6:c.282C>G ENSP00000375785.2:p.Asp94Glu
ENST00000477244.5:n.514C>G
ENST00000482455.5:n.500C>G
ENST00000486500.1:n.848C>G
ENST00000594523.5:c.282C>G ENSP00000468877.1:p.Asp94Glu
ENST00000595072.1:n.580C>G
ENST00000595072.2:n.2819C>G
ENST00000596362.1:c.390C>G ENSP00000472141.1:p.Asp130Glu
ENST00000597743.5:c.192C>G ENSP00000470308.1:p.Asp64Glu
ENST00000597868.5:n.715C>G
ENST00000598871.5:c.282C>G ENSP00000470502.1:p.Asp94Glu
ENST00000599839.5:c.282C>G ENSP00000471225.1:p.Asp94Glu
ENST00000602169.2:c.*426C>G ENSP00000499372.1:n.*426C>G