Canonical Allele Identifier: CA624957668

Gene: TTC19

Linked Data

• dbSNP Id: rs1287970365
• gnomAD v2: 17-15931967-G-C
• gnomAD v3: 17-16028653-G-C
• gnomAD v4: 17-16028653-G-C
• MyVariant Identifiers: chr17:g.15931967G>C (hg19) ; chr17:g.16028653G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16028653G>C , CM000679.2:g.16028653G>C	GRCh38
NC_000017.10:g.15931967G>C , CM000679.1:g.15931967G>C	GRCh37
NC_000017.9:g.15872692G>C	NCBI36
NG_029806.1:g.34274G>C
NG_047111.1:g.193094C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.*1131G>C MANE Select	ENSP00000261647.5:n.*1131G>C
ENST00000261647.9:c.*1131G>C	ENSP00000261647.5:n.*1131G>C
ENST00000465567.1:n.2668G>C
ENST00000470649.1:c.247+1951G>C	ENSP00000465627.1:n.247+1951G>C
ENST00000475723.5:c.2458G>C
ENST00000481107.1:n.2942G>C
NM_001271420.1:c.*1131G>C	NP_001258349.1:n.*1131G>C
NM_017775.3:c.*1131G>C	NP_060245.3:n.*1131G>C
XM_017024801.2:c.994+1951G>C	XP_016880290.2:n.994+1951G>C
XM_017024802.2:c.994+1951G>C	XP_016880291.2:n.994+1951G>C
NM_017775.4:c.*1131G>C MANE Select	NP_060245.3:n.*1131G>C
NM_001271420.2:c.*1131G>C	NP_001258349.1:n.*1131G>C