Canonical Allele Identifier: CA726464648

Gene: TTC19

Linked Data

• dbSNP Id: rs1460815519
• gnomAD v4: 17-16028839-A-C
• MyVariant Identifiers: chr17:g.15932153A>C (hg19) ; chr17:g.16028839A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16028839A>C , CM000679.2:g.16028839A>C	GRCh38
NC_000017.10:g.15932153A>C , CM000679.1:g.15932153A>C	GRCh37
NC_000017.9:g.15872878A>C	NCBI36
NG_029806.1:g.34460A>C
NG_047111.1:g.192908T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.*1317A>C MANE Select	ENSP00000261647.5:n.*1317A>C
ENST00000261647.9:c.*1317A>C	ENSP00000261647.5:n.*1317A>C
ENST00000470649.1:c.247+2137A>C	ENSP00000465627.1:n.247+2137A>C
NM_001271420.1:c.*1317A>C	NP_001258349.1:n.*1317A>C
NM_017775.3:c.*1317A>C	NP_060245.3:n.*1317A>C
XM_017024801.2:c.994+2137A>C	XP_016880290.2:n.994+2137A>C
XM_017024802.2:c.994+2137A>C	XP_016880291.2:n.994+2137A>C
NM_017775.4:c.*1317A>C MANE Select	NP_060245.3:n.*1317A>C
NM_001271420.2:c.*1317A>C	NP_001258349.1:n.*1317A>C