Canonical Allele Identifier: CA498414400

Gene: TTC19

Linked Data

• ClinVar Variation Id: 1529653
• ClinVar RCV Id: RCV002087218
• dbSNP Id: rs2151640141
• gnomAD v4: 17-15999992-G-A
• MyVariant Identifiers: chr17:g.15903306G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15999992G>A , CM000679.2:g.15999992G>A	GRCh38
NC_000017.10:g.15903306G>A , CM000679.1:g.15903306G>A	GRCh37
NC_000017.9:g.15844031G>A	NCBI36
NG_029806.1:g.5613G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.144G>A MANE Select	ENSP00000261647.5:p.Ala48=
ENST00000261647.9:c.144G>A	ENSP00000261647.5:p.Ala48=
ENST00000466729.5:c.209G>A
ENST00000470399.1:c.159G>A	ENSP00000465082.1:p.Ala53=
ENST00000475723.5:c.191G>A
ENST00000497842.6:n.169G>A
ENST00000583704.1:n.169G>A
NM_001271420.1:c.-315G>A	NP_001258349.1:n.-315G>A
NM_017775.3:c.144G>A	NP_060245.3:p.Ala48=
XM_011523950.1:c.144G>A	XP_011522252.1:p.Ala48=
XM_017024801.2:c.144G>A	XP_016880290.2:p.Ala48=
XM_017024802.2:c.144G>A	XP_016880291.2:p.Ala48=
XM_024450814.1:c.144G>A	XP_024306582.1:p.Ala48=
NM_017775.4:c.144G>A MANE Select	NP_060245.3:p.Ala48=
NM_001271420.2:c.-315G>A	NP_001258349.1:n.-315G>A