Canonical Allele Identifier: CA403488985

Gene: TICAM1

Linked Data

• dbSNP Id: rs2093585957
• gnomAD v4: 19-4816661-A-G
• MyVariant Identifiers: chr19:g.4816673A>G (hg19) ; chr19:g.4816661A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4816661A>G , CM000681.2:g.4816661A>G	GRCh38
NC_000019.9:g.4816673A>G , CM000681.1:g.4816673A>G	GRCh37
NC_000019.8:g.4767673A>G	NCBI36
NG_031998.1:g.20082T>C , LRG_358:g.20082T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248244.6:c.1717T>C MANE Select	ENSP00000248244.4:p.Tyr573His
ENST00000248244.5:c.1717T>C	ENSP00000248244.4:p.Tyr573His
ENST00000621756.1:c.1300T>C	ENSP00000479467.1:p.Tyr434His
NM_182919.3:c.1717T>C , LRG_358t1:c.1717T>C	NP_891549.1:p.Tyr573His
NM_001385678.1:c.1675T>C	NP_001372607.1:p.Tyr559His
NM_001385679.1:c.1582T>C	NP_001372608.1:p.Tyr528His
NM_001385680.1:c.1075T>C	NP_001372609.1:p.Tyr359His
NM_182919.4:c.1717T>C MANE Select	NP_891549.1:p.Tyr573His