Canonical Allele Identifier: CA9105004
Gene: TICAM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1534730
ClinVar RCV Id: RCV002076901
dbSNP Id: rs762939077
ExAC: 19:4816344 G / A
gnomAD v2: 19-4816344-G-A
gnomAD v4: 19-4816332-G-A
MyVariant Identifiers: chr19:g.4816344G>A (hg19) chr19:g.4816332G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4816332G>A , CM000681.2:g.4816332G>A GRCh38
NC_000019.9:g.4816344G>A , CM000681.1:g.4816344G>A GRCh37
NC_000019.8:g.4767344G>A NCBI36
NG_031998.1:g.20411C>T , LRG_358:g.20411C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000248244.6:c.2046C>T MANE Select ENSP00000248244.4:p.His682=
ENST00000248244.5:c.2046C>T ENSP00000248244.4:p.His682=
ENST00000621756.1:c.1548C>T ENSP00000479467.1:p.His516=
NM_182919.3:c.2046C>T , LRG_358t1:c.2046C>T NP_891549.1:p.His682=
NM_001385678.1:c.2004C>T NP_001372607.1:p.His668=
NM_001385679.1:c.1911C>T NP_001372608.1:p.His637=
NM_001385680.1:c.1404C>T NP_001372609.1:p.His468=
NM_182919.4:c.2046C>T MANE Select NP_891549.1:p.His682=
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