Canonical Allele Identifier: CA505174140
Gene: TICAM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1084675
ClinVar RCV Id: RCV001401751
dbSNP Id: rs1321096386
gnomAD v3: 19-4816527-G-A
gnomAD v4: 19-4816527-G-A
MyVariant Identifiers: chr19:g.4816539G>A (hg19) chr19:g.4816527G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4816527G>A , CM000681.2:g.4816527G>A GRCh38
NC_000019.9:g.4816539G>A , CM000681.1:g.4816539G>A GRCh37
NC_000019.8:g.4767539G>A NCBI36
NG_031998.1:g.20216C>T , LRG_358:g.20216C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000248244.6:c.1851C>T MANE Select ENSP00000248244.4:p.Ala617=
ENST00000248244.5:c.1851C>T ENSP00000248244.4:p.Ala617=
ENST00000621756.1:c.1434C>T ENSP00000479467.1:p.Ala478=
NM_182919.3:c.1851C>T , LRG_358t1:c.1851C>T NP_891549.1:p.Ala617=
NM_001385678.1:c.1809C>T NP_001372607.1:p.Ala603=
NM_001385679.1:c.1716C>T NP_001372608.1:p.Ala572=
NM_001385680.1:c.1209C>T NP_001372609.1:p.Ala403=
NM_182919.4:c.1851C>T MANE Select NP_891549.1:p.Ala617=
Search 100 bp 5'
Search 100 bp 3'