Canonical Allele Identifier: CA304546758
Gene: TICAM1 HGNC NCBI

Linked Data

dbSNP Id: rs11466725
gnomAD v2: 19-4816163-G-A
gnomAD v3: 19-4816151-G-A
gnomAD v4: 19-4816151-G-A
MyVariant Identifiers: chr19:g.4816163G>A (hg19) chr19:g.4816151G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4816151G>A , CM000681.2:g.4816151G>A GRCh38
NC_000019.9:g.4816163G>A , CM000681.1:g.4816163G>A GRCh37
NC_000019.8:g.4767163G>A NCBI36
NG_031998.1:g.20592C>T , LRG_358:g.20592C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000248244.6:c.*88C>T MANE Select ENSP00000248244.4:n.*88C>T
ENST00000248244.5:c.*88C>T ENSP00000248244.4:n.*88C>T
NM_182919.3:c.*88C>T , LRG_358t1:c.*88C>T NP_891549.1:n.*88C>T
NM_001385678.1:c.*88C>T NP_001372607.1:n.*88C>T
NM_001385679.1:c.*88C>T NP_001372608.1:n.*88C>T
NM_001385680.1:c.*88C>T NP_001372609.1:n.*88C>T
NM_182919.4:c.*88C>T MANE Select NP_891549.1:n.*88C>T
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