Canonical Allele Identifier: CA8407633

Gene: TTC19

Linked Data

• dbSNP Id: rs560959019
• ExAC: 17:15930946 G / C
• gnomAD v2: 17-15930946-G-C
• gnomAD v3: 17-16027632-G-C
• gnomAD v4: 17-16027632-G-C
• MyVariant Identifiers: chr17:g.15930946G>C (hg19) ; chr17:g.16027632G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16027632G>C , CM000679.2:g.16027632G>C	GRCh38
NC_000017.10:g.15930946G>C , CM000679.1:g.15930946G>C	GRCh37
NC_000017.9:g.15871671G>C	NCBI36
NG_029806.1:g.33253G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.*110G>C MANE Select	ENSP00000261647.5:n.*110G>C
ENST00000261647.9:c.*110G>C	ENSP00000261647.5:n.*110G>C
ENST00000465567.1:n.1647G>C
ENST00000470649.1:c.247+930G>C	ENSP00000465627.1:n.247+930G>C
ENST00000475723.5:c.1437G>C
ENST00000481107.1:n.1921G>C
NM_001271420.1:c.*110G>C	NP_001258349.1:n.*110G>C
NM_017775.3:c.*110G>C	NP_060245.3:n.*110G>C
XM_017024801.2:c.994+930G>C	XP_016880290.2:n.994+930G>C
XM_017024802.2:c.994+930G>C	XP_016880291.2:n.994+930G>C
NM_017775.4:c.*110G>C MANE Select	NP_060245.3:n.*110G>C
NM_001271420.2:c.*110G>C	NP_001258349.1:n.*110G>C