Canonical Allele Identifier: CA288165918

Gene: TTC19

Linked Data

• dbSNP Id: rs534882310
• gnomAD v2: 17-15932089-T-C
• gnomAD v3: 17-16028775-T-C
• gnomAD v4: 17-16028775-T-C
• MyVariant Identifiers: chr17:g.15932089T>C (hg19) ; chr17:g.16028775T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16028775T>C , CM000679.2:g.16028775T>C	GRCh38
NC_000017.10:g.15932089T>C , CM000679.1:g.15932089T>C	GRCh37
NC_000017.9:g.15872814T>C	NCBI36
NG_029806.1:g.34396T>C
NG_047111.1:g.192972A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261647.10:c.*1253T>C MANE Select	ENSP00000261647.5:n.*1253T>C
ENST00000261647.9:c.*1253T>C	ENSP00000261647.5:n.*1253T>C
ENST00000465567.1:n.2790T>C
ENST00000470649.1:c.247+2073T>C	ENSP00000465627.1:n.247+2073T>C
ENST00000475723.5:c.2580T>C
ENST00000481107.1:n.3064T>C
NM_001271420.1:c.*1253T>C	NP_001258349.1:n.*1253T>C
NM_017775.3:c.*1253T>C	NP_060245.3:n.*1253T>C
XM_017024801.2:c.994+2073T>C	XP_016880290.2:n.994+2073T>C
XM_017024802.2:c.994+2073T>C	XP_016880291.2:n.994+2073T>C
NM_017775.4:c.*1253T>C MANE Select	NP_060245.3:n.*1253T>C
NM_001271420.2:c.*1253T>C	NP_001258349.1:n.*1253T>C