Canonical Allele Identifier: CA726463333

Gene: TTC19

Linked Data

• dbSNP Id: rs1160078307
• gnomAD v4: 17-16027582-G-T
• MyVariant Identifiers: chr17:g.15930896G>T (hg19) ; chr17:g.16027582G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16027582G>T , CM000679.2:g.16027582G>T	GRCh38
NC_000017.10:g.15930896G>T , CM000679.1:g.15930896G>T	GRCh37
NC_000017.9:g.15871621G>T	NCBI36
NG_029806.1:g.33203G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.*60G>T MANE Select	ENSP00000261647.5:n.*60G>T
ENST00000261647.9:c.*60G>T	ENSP00000261647.5:n.*60G>T
ENST00000465567.1:n.1597G>T
ENST00000470649.1:c.247+880G>T	ENSP00000465627.1:n.247+880G>T
ENST00000475723.5:c.1387G>T
ENST00000481107.1:n.1871G>T
NM_001271420.1:c.*60G>T	NP_001258349.1:n.*60G>T
NM_017775.3:c.*60G>T	NP_060245.3:n.*60G>T
XM_017024801.2:c.994+880G>T	XP_016880290.2:n.994+880G>T
XM_017024802.2:c.994+880G>T	XP_016880291.2:n.994+880G>T
NM_017775.4:c.*60G>T MANE Select	NP_060245.3:n.*60G>T
NM_001271420.2:c.*60G>T	NP_001258349.1:n.*60G>T