Canonical Allele Identifier: CA403488873

Gene: TICAM1

Linked Data

• gnomAD v4: 19-4816614-C-A
• MyVariant Identifiers: chr19:g.4816626C>A (hg19) ; chr19:g.4816614C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4816614C>A , CM000681.2:g.4816614C>A	GRCh38
NC_000019.9:g.4816626C>A , CM000681.1:g.4816626C>A	GRCh37
NC_000019.8:g.4767626C>A	NCBI36
NG_031998.1:g.20129G>T , LRG_358:g.20129G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248244.6:c.1764G>T MANE Select	ENSP00000248244.4:p.Gln588His
ENST00000248244.5:c.1764G>T	ENSP00000248244.4:p.Gln588His
ENST00000621756.1:c.1347G>T	ENSP00000479467.1:p.Gln449His
NM_182919.3:c.1764G>T , LRG_358t1:c.1764G>T	NP_891549.1:p.Gln588His
NM_001385678.1:c.1722G>T	NP_001372607.1:p.Gln574His
NM_001385679.1:c.1629G>T	NP_001372608.1:p.Gln543His
NM_001385680.1:c.1122G>T	NP_001372609.1:p.Gln374His
NM_182919.4:c.1764G>T MANE Select	NP_891549.1:p.Gln588His