Canonical Allele Identifier: CA8407608

Gene: TTC19

Linked Data

• dbSNP Id: rs556972363
• ExAC: 17:15930840 C / T
• gnomAD v2: 17-15930840-C-T
• gnomAD v3: 17-16027526-C-T
• gnomAD v4: 17-16027526-C-T
• MyVariant Identifiers: chr17:g.15930840C>T (hg19) ; chr17:g.16027526C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16027526C>T , CM000679.2:g.16027526C>T	GRCh38
NC_000017.10:g.15930840C>T , CM000679.1:g.15930840C>T	GRCh37
NC_000017.9:g.15871565C>T	NCBI36
NG_029806.1:g.33147C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.*4C>T MANE Select	ENSP00000261647.5:n.*4C>T
ENST00000261647.9:c.*4C>T	ENSP00000261647.5:n.*4C>T
ENST00000465567.1:n.1541C>T
ENST00000470649.1:c.247+824C>T	ENSP00000465627.1:n.247+824C>T
ENST00000475723.5:c.1331C>T
ENST00000481107.1:n.1815C>T
ENST00000497842.6:n.1351C>T
NM_001271420.1:c.*4C>T	NP_001258349.1:n.*4C>T
NM_017775.3:c.*4C>T	NP_060245.3:n.*4C>T
XM_017024801.2:c.994+824C>T	XP_016880290.2:n.994+824C>T
XM_017024802.2:c.994+824C>T	XP_016880291.2:n.994+824C>T
NM_017775.4:c.*4C>T MANE Select	NP_060245.3:n.*4C>T
NM_001271420.2:c.*4C>T	NP_001258349.1:n.*4C>T