Canonical Allele Identifier: CA403488253

Gene: TICAM1

Linked Data

• gnomAD v4: 19-4816323-C-A
• MyVariant Identifiers: chr19:g.4816335C>A (hg19) ; chr19:g.4816323C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4816323C>A , CM000681.2:g.4816323C>A	GRCh38
NC_000019.9:g.4816335C>A , CM000681.1:g.4816335C>A	GRCh37
NC_000019.8:g.4767335C>A	NCBI36
NG_031998.1:g.20420G>T , LRG_358:g.20420G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248244.6:c.2055G>T MANE Select	ENSP00000248244.4:p.Gln685His
ENST00000248244.5:c.2055G>T	ENSP00000248244.4:p.Gln685His
ENST00000621756.1:c.1557G>T	ENSP00000479467.1:p.Gln519His
NM_182919.3:c.2055G>T , LRG_358t1:c.2055G>T	NP_891549.1:p.Gln685His
NM_001385678.1:c.2013G>T	NP_001372607.1:p.Gln671His
NM_001385679.1:c.1920G>T	NP_001372608.1:p.Gln640His
NM_001385680.1:c.1413G>T	NP_001372609.1:p.Gln471His
NM_182919.4:c.2055G>T MANE Select	NP_891549.1:p.Gln685His