Canonical Allele Identifier: CA288165469

Gene: TTC19

Linked Data

• dbSNP Id: rs771309721
• gnomAD v2: 17-15931440-T-C
• gnomAD v3: 17-16028126-T-C
• gnomAD v4: 17-16028126-T-C
• MyVariant Identifiers: chr17:g.15931440T>C (hg19) ; chr17:g.16028126T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16028126T>C , CM000679.2:g.16028126T>C	GRCh38
NC_000017.10:g.15931440T>C , CM000679.1:g.15931440T>C	GRCh37
NC_000017.9:g.15872165T>C	NCBI36
NG_029806.1:g.33747T>C
NG_047111.1:g.193621A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.*604T>C MANE Select	ENSP00000261647.5:n.*604T>C
ENST00000261647.9:c.*604T>C	ENSP00000261647.5:n.*604T>C
ENST00000465567.1:n.2141T>C
ENST00000470649.1:c.247+1424T>C	ENSP00000465627.1:n.247+1424T>C
ENST00000475723.5:c.1931T>C
ENST00000481107.1:n.2415T>C
NM_001271420.1:c.*604T>C	NP_001258349.1:n.*604T>C
NM_017775.3:c.*604T>C	NP_060245.3:n.*604T>C
XM_017024801.2:c.994+1424T>C	XP_016880290.2:n.994+1424T>C
XM_017024802.2:c.994+1424T>C	XP_016880291.2:n.994+1424T>C
NM_017775.4:c.*604T>C MANE Select	NP_060245.3:n.*604T>C
NM_001271420.2:c.*604T>C	NP_001258349.1:n.*604T>C