Canonical Allele Identifier: CA505173901
Gene: TICAM1 HGNC NCBI

Linked Data

gnomAD v3: 19-4816422-T-G
gnomAD v4: 19-4816422-T-G
MyVariant Identifiers: chr19:g.4816434T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4816422T>G , CM000681.2:g.4816422T>G GRCh38
NC_000019.9:g.4816434T>G , CM000681.1:g.4816434T>G GRCh37
NC_000019.8:g.4767434T>G NCBI36
NG_031998.1:g.20321A>C , LRG_358:g.20321A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000248244.6:c.1956A>C MANE Select ENSP00000248244.4:p.Pro652=
ENST00000248244.5:c.1956A>C ENSP00000248244.4:p.Pro652=
ENST00000621756.1:c.1480-22A>C ENSP00000479467.1:n.1480-22A>C
NM_182919.3:c.1956A>C , LRG_358t1:c.1956A>C NP_891549.1:p.Pro652=
NM_001385678.1:c.1914A>C NP_001372607.1:p.Pro638=
NM_001385679.1:c.1821A>C NP_001372608.1:p.Pro607=
NM_001385680.1:c.1314A>C NP_001372609.1:p.Pro438=
NM_182919.4:c.1956A>C MANE Select NP_891549.1:p.Pro652=
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