Canonical Allele Identifier: CA9104985
Gene: TICAM1 HGNC NCBI

Linked Data

dbSNP Id: rs377296089
gnomAD v2: 19-4816248-C-T
gnomAD v3: 19-4816236-C-T
gnomAD v4: 19-4816236-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4816236C>T , CM000681.2:g.4816236C>T GRCh38
NC_000019.9:g.4816248C>T , CM000681.1:g.4816248C>T GRCh37
NC_000019.8:g.4767248C>T NCBI36
NG_031998.1:g.20507G>A , LRG_358:g.20507G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000248244.6:c.*3G>A MANE Select ENSP00000248244.4:n.*3G>A
ENST00000248244.5:c.*3G>A ENSP00000248244.4:n.*3G>A
ENST00000621756.1:c.*3G>A ENSP00000479467.1:n.*3G>A
NM_182919.3:c.*3G>A , LRG_358t1:c.*3G>A NP_891549.1:n.*3G>A
NM_001385678.1:c.*3G>A NP_001372607.1:n.*3G>A
NM_001385679.1:c.*3G>A NP_001372608.1:n.*3G>A
NM_001385680.1:c.*3G>A NP_001372609.1:n.*3G>A
NM_182919.4:c.*3G>A MANE Select NP_891549.1:n.*3G>A