Canonical Allele Identifier: CA9105000
Gene: TICAM1 HGNC NCBI

Linked Data

dbSNP Id: rs775729703
gnomAD v2: 19-4816316-T-G
gnomAD v4: 19-4816304-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4816304T>G , CM000681.2:g.4816304T>G GRCh38
NC_000019.9:g.4816316T>G , CM000681.1:g.4816316T>G GRCh37
NC_000019.8:g.4767316T>G NCBI36
NG_031998.1:g.20439A>C , LRG_358:g.20439A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000248244.6:c.2074A>C MANE Select ENSP00000248244.4:p.Asn692His
ENST00000248244.5:c.2074A>C ENSP00000248244.4:p.Asn692His
ENST00000621756.1:c.1576A>C ENSP00000479467.1:p.Asn526His
NM_182919.3:c.2074A>C , LRG_358t1:c.2074A>C NP_891549.1:p.Asn692His
NM_001385678.1:c.2032A>C NP_001372607.1:p.Asn678His
NM_001385679.1:c.1939A>C NP_001372608.1:p.Asn647His
NM_001385680.1:c.1432A>C NP_001372609.1:p.Asn478His
NM_182919.4:c.2074A>C MANE Select NP_891549.1:p.Asn692His