Canonical Allele Identifier: CA9105040
Gene: TICAM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1609330
ClinVar RCV Id: RCV002150218
dbSNP Id: rs747059000
ExAC: 19:4816488 G / A
gnomAD v2: 19-4816488-G-A
gnomAD v3: 19-4816476-G-A
gnomAD v4: 19-4816476-G-A
MyVariant Identifiers: chr19:g.4816488G>A (hg19) chr19:g.4816476G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4816476G>A , CM000681.2:g.4816476G>A GRCh38
NC_000019.9:g.4816488G>A , CM000681.1:g.4816488G>A GRCh37
NC_000019.8:g.4767488G>A NCBI36
NG_031998.1:g.20267C>T , LRG_358:g.20267C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000248244.6:c.1902C>T MANE Select ENSP00000248244.4:p.His634=
ENST00000248244.5:c.1902C>T ENSP00000248244.4:p.His634=
ENST00000621756.1:c.1479+6C>T ENSP00000479467.1:n.1479+6C>T
NM_182919.3:c.1902C>T , LRG_358t1:c.1902C>T NP_891549.1:p.His634=
NM_001385678.1:c.1860C>T NP_001372607.1:p.His620=
NM_001385679.1:c.1767C>T NP_001372608.1:p.His589=
NM_001385680.1:c.1260C>T NP_001372609.1:p.His420=
NM_182919.4:c.1902C>T MANE Select NP_891549.1:p.His634=
Search 100 bp 5'
Search 100 bp 3'