Canonical Allele Identifier: CA406473239

Gene: CALM3

Linked Data

• MyVariant Identifiers: chr19:g.47112167T>A (hg19) ; chr19:g.46608910T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46608910T>A , CM000681.2:g.46608910T>A	GRCh38
NC_000019.9:g.47112167T>A , CM000681.1:g.47112167T>A	GRCh37
NC_000019.8:g.51804007T>A	NCBI36
NG_051331.1:g.12837T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291295.14:c.350T>A MANE Select	ENSP00000291295.8:p.Leu117Gln
ENST00000595072.2:n.2779T>A
ENST00000602169.2:c.*386T>A	ENSP00000499372.1:n.*386T>A
ENST00000291295.13:c.350T>A	ENSP00000291295.8:p.Leu117Gln
ENST00000391918.6:c.242T>A	ENSP00000375785.2:p.Leu81Gln
ENST00000477244.5:n.474T>A
ENST00000482455.5:n.460T>A
ENST00000486500.1:n.808T>A
ENST00000594523.5:c.242T>A	ENSP00000468877.1:p.Leu81Gln
ENST00000595072.1:n.540T>A
ENST00000596362.1:c.350T>A	ENSP00000472141.1:p.Leu117Gln
ENST00000597743.5:c.166-14T>A	ENSP00000470308.1:n.166-14T>A
ENST00000597868.5:n.675T>A
ENST00000598871.5:c.242T>A	ENSP00000470502.1:p.Leu81Gln
ENST00000599839.5:c.242T>A	ENSP00000471225.1:p.Leu81Gln
NM_005184.2:c.350T>A	NP_005175.2:p.Leu117Gln
NM_001329921.1:c.242T>A	NP_001316850.1:p.Leu81Gln
NM_001329922.1:c.350T>A	NP_001316851.1:p.Leu117Gln
NM_001329923.1:c.242T>A	NP_001316852.1:p.Leu81Gln
NM_001329924.1:c.242T>A	NP_001316853.1:p.Leu81Gln
NM_001329925.1:c.242T>A	NP_001316854.1:p.Leu81Gln
NM_001329926.1:c.242T>A	NP_001316855.1:p.Leu81Gln
NM_005184.3:c.350T>A	NP_005175.2:p.Leu117Gln
NM_001329924.2:c.242T>A	NP_001316853.1:p.Leu81Gln
NM_001329925.2:c.242T>A	NP_001316854.1:p.Leu81Gln
NM_001329926.2:c.242T>A	NP_001316855.1:p.Leu81Gln
NM_005184.4:c.350T>A MANE Select	NP_005175.2:p.Leu117Gln