Canonical Allele Identifier: CA9104975
Gene: TICAM1 HGNC NCBI

Linked Data

dbSNP Id: rs201033806
gnomAD v2: 19-4816201-G-A
gnomAD v3: 19-4816189-G-A
gnomAD v4: 19-4816189-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4816189G>A , CM000681.2:g.4816189G>A GRCh38
NC_000019.9:g.4816201G>A , CM000681.1:g.4816201G>A GRCh37
NC_000019.8:g.4767201G>A NCBI36
NG_031998.1:g.20554C>T , LRG_358:g.20554C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000248244.6:c.*50C>T MANE Select ENSP00000248244.4:n.*50C>T
ENST00000248244.5:c.*50C>T ENSP00000248244.4:n.*50C>T
NM_182919.3:c.*50C>T , LRG_358t1:c.*50C>T NP_891549.1:n.*50C>T
NM_001385678.1:c.*50C>T NP_001372607.1:n.*50C>T
NM_001385679.1:c.*50C>T NP_001372608.1:n.*50C>T
NM_001385680.1:c.*50C>T NP_001372609.1:n.*50C>T
NM_182919.4:c.*50C>T MANE Select NP_891549.1:n.*50C>T