Canonical Allele Identifier: CA8407315

Gene: TTC19

Linked Data

• ClinVar Variation Id: 509771
• ClinVar RCV Id: RCV000599808 ; RCV000612292 ; RCV002529566
• dbSNP Id: rs374666326
• ExAC: 17:15905225 T / C
• gnomAD v2: 17-15905225-T-C
• gnomAD v3: 17-16001911-T-C
• gnomAD v4: 17-16001911-T-C
• MyVariant Identifiers: chr17:g.15905225T>C (hg19) ; chr17:g.16001911T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16001911T>C , CM000679.2:g.16001911T>C	GRCh38
NC_000017.10:g.15905225T>C , CM000679.1:g.15905225T>C	GRCh37
NC_000017.9:g.15845950T>C	NCBI36
NG_029806.1:g.7532T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.313-4T>C MANE Select	ENSP00000261647.5:n.313-4T>C
ENST00000261647.9:c.313-4T>C	ENSP00000261647.5:n.313-4T>C
ENST00000466729.5:c.515-4T>C
ENST00000470399.1:c.328-4T>C	ENSP00000465082.1:n.328-4T>C
ENST00000475723.5:c.497-4T>C
ENST00000497842.6:n.423-4T>C
NM_001271420.1:c.-9-4T>C	NP_001258349.1:n.-9-4T>C
NM_017775.3:c.313-4T>C	NP_060245.3:n.313-4T>C
XM_011523950.1:c.313-4T>C	XP_011522252.1:n.313-4T>C
XM_017024801.2:c.313-4T>C	XP_016880290.2:n.313-4T>C
XM_017024802.2:c.313-4T>C	XP_016880291.2:n.313-4T>C
XM_024450814.1:c.313-4T>C	XP_024306582.1:n.313-4T>C
NM_017775.4:c.313-4T>C MANE Select	NP_060245.3:n.313-4T>C
NM_001271420.2:c.-9-4T>C	NP_001258349.1:n.-9-4T>C