Canonical Allele Identifier: CA9104982

Gene: TICAM1

Linked Data

• dbSNP Id: rs767771542
• ExAC: 19:4816230 T / C
• gnomAD v2: 19-4816230-T-C
• gnomAD v3: 19-4816218-T-C
• gnomAD v4: 19-4816218-T-C
• MyVariant Identifiers: chr19:g.4816230T>C (hg19) ; chr19:g.4816218T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4816218T>C , CM000681.2:g.4816218T>C	GRCh38
NC_000019.9:g.4816230T>C , CM000681.1:g.4816230T>C	GRCh37
NC_000019.8:g.4767230T>C	NCBI36
NG_031998.1:g.20525A>G , LRG_358:g.20525A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248244.6:c.*21A>G MANE Select	ENSP00000248244.4:n.*21A>G
ENST00000248244.5:c.*21A>G	ENSP00000248244.4:n.*21A>G
NM_182919.3:c.*21A>G , LRG_358t1:c.*21A>G	NP_891549.1:n.*21A>G
NM_001385678.1:c.*21A>G	NP_001372607.1:n.*21A>G
NM_001385679.1:c.*21A>G	NP_001372608.1:n.*21A>G
NM_001385680.1:c.*21A>G	NP_001372609.1:n.*21A>G
NM_182919.4:c.*21A>G MANE Select	NP_891549.1:n.*21A>G