Canonical Allele Identifier: CA507973249

Gene: CALM3

Linked Data

• dbSNP Id: rs1355350182
• gnomAD v2: 19-47111800-A-G
• gnomAD v4: 19-46608543-A-G
• MyVariant Identifiers: chr19:g.47111800A>G (hg19) ; chr19:g.46608543A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46608543A>G , CM000681.2:g.46608543A>G	GRCh38
NC_000019.9:g.47111800A>G , CM000681.1:g.47111800A>G	GRCh37
NC_000019.8:g.51803640A>G	NCBI36
NG_051331.1:g.12470A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291295.14:c.240A>G MANE Select	ENSP00000291295.8:p.Thr80=
ENST00000595072.2:n.2669A>G
ENST00000602169.2:c.*276A>G	ENSP00000499372.1:n.*276A>G
ENST00000291295.13:c.240A>G	ENSP00000291295.8:p.Thr80=
ENST00000391918.6:c.132A>G	ENSP00000375785.2:p.Thr44=
ENST00000477244.5:n.364A>G
ENST00000482455.5:n.350A>G
ENST00000486500.1:n.441A>G
ENST00000594523.5:c.132A>G	ENSP00000468877.1:p.Thr44=
ENST00000595072.1:n.430A>G
ENST00000596362.1:c.240A>G	ENSP00000472141.1:p.Thr80=
ENST00000597743.5:c.165+216A>G	ENSP00000470308.1:n.165+216A>G
ENST00000597868.5:n.308A>G
ENST00000598871.5:c.132A>G	ENSP00000470502.1:p.Thr44=
ENST00000599839.5:c.132A>G	ENSP00000471225.1:p.Thr44=
NM_005184.2:c.240A>G	NP_005175.2:p.Thr80=
NM_001329921.1:c.132A>G	NP_001316850.1:p.Thr44=
NM_001329922.1:c.240A>G	NP_001316851.1:p.Thr80=
NM_001329923.1:c.132A>G	NP_001316852.1:p.Thr44=
NM_001329924.1:c.132A>G	NP_001316853.1:p.Thr44=
NM_001329925.1:c.132A>G	NP_001316854.1:p.Thr44=
NM_001329926.1:c.132A>G	NP_001316855.1:p.Thr44=
NM_005184.3:c.240A>G	NP_005175.2:p.Thr80=
NM_001329924.2:c.132A>G	NP_001316853.1:p.Thr44=
NM_001329925.2:c.132A>G	NP_001316854.1:p.Thr44=
NM_001329926.2:c.132A>G	NP_001316855.1:p.Thr44=
NM_005184.4:c.240A>G MANE Select	NP_005175.2:p.Thr80=