Canonical Allele Identifier: CA9105153
Gene: TICAM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1103951
ClinVar RCV Id: RCV001427812
dbSNP Id: rs544182648
ExAC: 19:4817078 C / T
gnomAD v2: 19-4817078-C-T
gnomAD v3: 19-4817066-C-T
gnomAD v4: 19-4817066-C-T
MyVariant Identifiers: chr19:g.4817078C>T (hg19) chr19:g.4817066C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4817066C>T , CM000681.2:g.4817066C>T GRCh38
NC_000019.9:g.4817078C>T , CM000681.1:g.4817078C>T GRCh37
NC_000019.8:g.4768078C>T NCBI36
NG_031998.1:g.19677G>A , LRG_358:g.19677G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000248244.6:c.1312G>A MANE Select ENSP00000248244.4:p.Glu438Lys
ENST00000248244.5:c.1312G>A ENSP00000248244.4:p.Glu438Lys
ENST00000621756.1:c.895G>A ENSP00000479467.1:p.Glu299Lys
NM_182919.3:c.1312G>A , LRG_358t1:c.1312G>A NP_891549.1:p.Glu438Lys
NM_001385678.1:c.1270G>A NP_001372607.1:p.Glu424Lys
NM_001385679.1:c.1177G>A NP_001372608.1:p.Glu393Lys
NM_001385680.1:c.670G>A NP_001372609.1:p.Glu224Lys
NM_182919.4:c.1312G>A MANE Select NP_891549.1:p.Glu438Lys
Search 100 bp 5'
Search 100 bp 3'