Canonical Allele Identifier: CA624957578

Gene: TTC19

Linked Data

• dbSNP Id: rs1236990672
• gnomAD v2: 17-15931585-A-G
• MyVariant Identifiers: chr17:g.15931585A>G (hg19) ; chr17:g.16028271A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16028271A>G , CM000679.2:g.16028271A>G	GRCh38
NC_000017.10:g.15931585A>G , CM000679.1:g.15931585A>G	GRCh37
NC_000017.9:g.15872310A>G	NCBI36
NG_029806.1:g.33892A>G
NG_047111.1:g.193476T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.*749A>G MANE Select	ENSP00000261647.5:n.*749A>G
ENST00000261647.9:c.*749A>G	ENSP00000261647.5:n.*749A>G
ENST00000465567.1:n.2286A>G
ENST00000470649.1:c.247+1569A>G	ENSP00000465627.1:n.247+1569A>G
ENST00000475723.5:c.2076A>G
ENST00000481107.1:n.2560A>G
NM_001271420.1:c.*749A>G	NP_001258349.1:n.*749A>G
NM_017775.3:c.*749A>G	NP_060245.3:n.*749A>G
XM_017024801.2:c.994+1569A>G	XP_016880290.2:n.994+1569A>G
XM_017024802.2:c.994+1569A>G	XP_016880291.2:n.994+1569A>G
NM_017775.4:c.*749A>G MANE Select	NP_060245.3:n.*749A>G
NM_001271420.2:c.*749A>G	NP_001258349.1:n.*749A>G