Canonical Allele Identifier: CA398379434

Gene: TTC19

Linked Data

• gnomAD v4: 17-16027492-T-G
• MyVariant Identifiers: chr17:g.15930806T>G (hg19) ; chr17:g.16027492T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16027492T>G , CM000679.2:g.16027492T>G	GRCh38
NC_000017.10:g.15930806T>G , CM000679.1:g.15930806T>G	GRCh37
NC_000017.9:g.15871531T>G	NCBI36
NG_029806.1:g.33113T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.1113T>G MANE Select	ENSP00000261647.5:p.Ser371Arg
ENST00000261647.9:c.1113T>G	ENSP00000261647.5:p.Ser371Arg
ENST00000465567.1:n.1507T>G
ENST00000470649.1:c.247+790T>G	ENSP00000465627.1:n.247+790T>G
ENST00000475723.5:c.1297T>G
ENST00000481107.1:n.1781T>G
ENST00000497842.6:n.1317T>G
NM_001271420.1:c.792T>G	NP_001258349.1:p.Ser264Arg
NM_017775.3:c.1113T>G	NP_060245.3:p.Ser371Arg
XM_017024801.2:c.994+790T>G	XP_016880290.2:n.994+790T>G
XM_017024802.2:c.994+790T>G	XP_016880291.2:n.994+790T>G
NM_017775.4:c.1113T>G MANE Select	NP_060245.3:p.Ser371Arg
NM_001271420.2:c.792T>G	NP_001258349.1:p.Ser264Arg