Canonical Allele Identifier: CA624957793

Gene: TTC19

Linked Data

• dbSNP Id: rs1417399085
• gnomAD v2: 17-15932191-C-T
• gnomAD v4: 17-16028877-C-T
• MyVariant Identifiers: chr17:g.15932191C>T (hg19) ; chr17:g.16028877C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16028877C>T , CM000679.2:g.16028877C>T	GRCh38
NC_000017.10:g.15932191C>T , CM000679.1:g.15932191C>T	GRCh37
NC_000017.9:g.15872916C>T	NCBI36
NG_029806.1:g.34498C>T
NG_047111.1:g.192870G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.*1355C>T MANE Select	ENSP00000261647.5:n.*1355C>T
ENST00000261647.9:c.*1355C>T	ENSP00000261647.5:n.*1355C>T
ENST00000470649.1:c.247+2175C>T	ENSP00000465627.1:n.247+2175C>T
NM_001271420.1:c.*1355C>T	NP_001258349.1:n.*1355C>T
NM_017775.3:c.*1355C>T	NP_060245.3:n.*1355C>T
XM_017024801.2:c.994+2175C>T	XP_016880290.2:n.994+2175C>T
XM_017024802.2:c.994+2175C>T	XP_016880291.2:n.994+2175C>T
NM_017775.4:c.*1355C>T MANE Select	NP_060245.3:n.*1355C>T
NM_001271420.2:c.*1355C>T	NP_001258349.1:n.*1355C>T