Canonical Allele Identifier: CA9104984
Gene: TICAM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 403539
ClinVar RCV Id: RCV000454842
dbSNP Id: rs1046673
gnomAD v2: 19-4816241-G-A
gnomAD v3: 19-4816229-G-A
gnomAD v4: 19-4816229-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4816229G>A , CM000681.2:g.4816229G>A GRCh38
NC_000019.9:g.4816241G>A , CM000681.1:g.4816241G>A GRCh37
NC_000019.8:g.4767241G>A NCBI36
NG_031998.1:g.20514C>T , LRG_358:g.20514C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000248244.6:c.*10C>T MANE Select ENSP00000248244.4:n.*10C>T
ENST00000248244.5:c.*10C>T ENSP00000248244.4:n.*10C>T
NM_182919.3:c.*10C>T , LRG_358t1:c.*10C>T NP_891549.1:n.*10C>T
NM_001385678.1:c.*10C>T NP_001372607.1:n.*10C>T
NM_001385679.1:c.*10C>T NP_001372608.1:n.*10C>T
NM_001385680.1:c.*10C>T NP_001372609.1:n.*10C>T
NM_182919.4:c.*10C>T MANE Select NP_891549.1:n.*10C>T