Canonical Allele Identifier: CA398379634

Gene: TTC19

Linked Data

• MyVariant Identifiers: chr17:g.15930832T>A (hg19) ; chr17:g.16027518T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16027518T>A , CM000679.2:g.16027518T>A	GRCh38
NC_000017.10:g.15930832T>A , CM000679.1:g.15930832T>A	GRCh37
NC_000017.9:g.15871557T>A	NCBI36
NG_029806.1:g.33139T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.1139T>A MANE Select	ENSP00000261647.5:p.Leu380His
ENST00000261647.9:c.1139T>A	ENSP00000261647.5:p.Leu380His
ENST00000465567.1:n.1533T>A
ENST00000470649.1:c.247+816T>A	ENSP00000465627.1:n.247+816T>A
ENST00000475723.5:c.1323T>A
ENST00000481107.1:n.1807T>A
ENST00000497842.6:n.1343T>A
NM_001271420.1:c.818T>A	NP_001258349.1:p.Leu273His
NM_017775.3:c.1139T>A	NP_060245.3:p.Leu380His
XM_017024801.2:c.994+816T>A	XP_016880290.2:n.994+816T>A
XM_017024802.2:c.994+816T>A	XP_016880291.2:n.994+816T>A
NM_017775.4:c.1139T>A MANE Select	NP_060245.3:p.Leu380His
NM_001271420.2:c.818T>A	NP_001258349.1:p.Leu273His