Canonical Allele Identifier: CA498040283

Gene: TTC19

Linked Data

• MyVariant Identifiers: chr17:g.15930803A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16027489A>G , CM000679.2:g.16027489A>G	GRCh38
NC_000017.10:g.15930803A>G , CM000679.1:g.15930803A>G	GRCh37
NC_000017.9:g.15871528A>G	NCBI36
NG_029806.1:g.33110A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.1110A>G MANE Select	ENSP00000261647.5:p.Lys370=
ENST00000261647.9:c.1110A>G	ENSP00000261647.5:p.Lys370=
ENST00000465567.1:n.1504A>G
ENST00000470649.1:c.247+787A>G	ENSP00000465627.1:n.247+787A>G
ENST00000475723.5:c.1294A>G
ENST00000481107.1:n.1778A>G
ENST00000497842.6:n.1314A>G
NM_001271420.1:c.789A>G	NP_001258349.1:p.Lys263=
NM_017775.3:c.1110A>G	NP_060245.3:p.Lys370=
XM_017024801.2:c.994+787A>G	XP_016880290.2:n.994+787A>G
XM_017024802.2:c.994+787A>G	XP_016880291.2:n.994+787A>G
NM_017775.4:c.1110A>G MANE Select	NP_060245.3:p.Lys370=
NM_001271420.2:c.789A>G	NP_001258349.1:p.Lys263=