Canonical Allele Identifier: CA8407673

Gene: TTC19

Linked Data

• ClinVar Variation Id: 321962
• ClinVar RCV Id: RCV000375460
• dbSNP Id: rs143866104
• ExAC: 17:15931582 C / G
• gnomAD v2: 17-15931582-C-G
• gnomAD v3: 17-16028268-C-G
• gnomAD v4: 17-16028268-C-G
• MyVariant Identifiers: chr17:g.15931582C>G (hg19) ; chr17:g.16028268C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16028268C>G , CM000679.2:g.16028268C>G	GRCh38
NC_000017.10:g.15931582C>G , CM000679.1:g.15931582C>G	GRCh37
NC_000017.9:g.15872307C>G	NCBI36
NG_029806.1:g.33889C>G
NG_047111.1:g.193479G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.*746C>G MANE Select	ENSP00000261647.5:n.*746C>G
ENST00000261647.9:c.*746C>G	ENSP00000261647.5:n.*746C>G
ENST00000465567.1:n.2283C>G
ENST00000470649.1:c.247+1566C>G	ENSP00000465627.1:n.247+1566C>G
ENST00000475723.5:c.2073C>G
ENST00000481107.1:n.2557C>G
NM_001271420.1:c.*746C>G	NP_001258349.1:n.*746C>G
NM_017775.3:c.*746C>G	NP_060245.3:n.*746C>G
XM_017024801.2:c.994+1566C>G	XP_016880290.2:n.994+1566C>G
XM_017024802.2:c.994+1566C>G	XP_016880291.2:n.994+1566C>G
NM_017775.4:c.*746C>G MANE Select	NP_060245.3:n.*746C>G
NM_001271420.2:c.*746C>G	NP_001258349.1:n.*746C>G