Canonical Allele Identifier: CA9104991
Gene: TICAM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 580558
ClinVar RCV Id: RCV000704138
dbSNP Id: rs200326236
ExAC: 19:4816283 C / T
gnomAD v2: 19-4816283-C-T
gnomAD v3: 19-4816271-C-T
gnomAD v4: 19-4816271-C-T
MyVariant Identifiers: chr19:g.4816283C>T (hg19) chr19:g.4816271C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4816271C>T , CM000681.2:g.4816271C>T GRCh38
NC_000019.9:g.4816283C>T , CM000681.1:g.4816283C>T GRCh37
NC_000019.8:g.4767283C>T NCBI36
NG_031998.1:g.20472G>A , LRG_358:g.20472G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000248244.6:c.2107G>A MANE Select ENSP00000248244.4:p.Ala703Thr
ENST00000248244.5:c.2107G>A ENSP00000248244.4:p.Ala703Thr
ENST00000621756.1:c.1609G>A ENSP00000479467.1:p.Ala537Thr
NM_182919.3:c.2107G>A , LRG_358t1:c.2107G>A NP_891549.1:p.Ala703Thr
NM_001385678.1:c.2065G>A NP_001372607.1:p.Ala689Thr
NM_001385679.1:c.1972G>A NP_001372608.1:p.Ala658Thr
NM_001385680.1:c.1465G>A NP_001372609.1:p.Ala489Thr
NM_182919.4:c.2107G>A MANE Select NP_891549.1:p.Ala703Thr
Search 100 bp 5'
Search 100 bp 3'