Canonical Allele Identifier: CA403487977

Gene: TICAM1

Linked Data

• gnomAD v4: 19-4816267-G-T
• MyVariant Identifiers: chr19:g.4816279G>T (hg19) ; chr19:g.4816267G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4816267G>T , CM000681.2:g.4816267G>T	GRCh38
NC_000019.9:g.4816279G>T , CM000681.1:g.4816279G>T	GRCh37
NC_000019.8:g.4767279G>T	NCBI36
NG_031998.1:g.20476C>A , LRG_358:g.20476C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248244.6:c.2111C>A MANE Select	ENSP00000248244.4:p.Pro704His
ENST00000248244.5:c.2111C>A	ENSP00000248244.4:p.Pro704His
ENST00000621756.1:c.1613C>A	ENSP00000479467.1:p.Pro538His
NM_182919.3:c.2111C>A , LRG_358t1:c.2111C>A	NP_891549.1:p.Pro704His
NM_001385678.1:c.2069C>A	NP_001372607.1:p.Pro690His
NM_001385679.1:c.1976C>A	NP_001372608.1:p.Pro659His
NM_001385680.1:c.1469C>A	NP_001372609.1:p.Pro490His
NM_182919.4:c.2111C>A MANE Select	NP_891549.1:p.Pro704His