Canonical Allele Identifier: CA304547546
Gene: TICAM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2033520
ClinVar RCV Id: RCV002885220
dbSNP Id: rs925405032
gnomAD v4: 19-4817058-G-A
MyVariant Identifiers: chr19:g.4817070G>A (hg19) chr19:g.4817058G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4817058G>A , CM000681.2:g.4817058G>A GRCh38
NC_000019.9:g.4817070G>A , CM000681.1:g.4817070G>A GRCh37
NC_000019.8:g.4768070G>A NCBI36
NG_031998.1:g.19685C>T , LRG_358:g.19685C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000248244.6:c.1320C>T MANE Select ENSP00000248244.4:p.Ser440=
ENST00000248244.5:c.1320C>T ENSP00000248244.4:p.Ser440=
ENST00000621756.1:c.903C>T ENSP00000479467.1:p.Ser301=
NM_182919.3:c.1320C>T , LRG_358t1:c.1320C>T NP_891549.1:p.Ser440=
NM_001385678.1:c.1278C>T NP_001372607.1:p.Ser426=
NM_001385679.1:c.1185C>T NP_001372608.1:p.Ser395=
NM_001385680.1:c.678C>T NP_001372609.1:p.Ser226=
NM_182919.4:c.1320C>T MANE Select NP_891549.1:p.Ser440=
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