Canonical Allele Identifier: CA288164857

Gene: TTC19

Linked Data

• dbSNP Id: rs1023577007
• gnomAD v3: 17-16027600-C-T
• gnomAD v4: 17-16027600-C-T
• MyVariant Identifiers: chr17:g.15930914C>T (hg19) ; chr17:g.16027600C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16027600C>T , CM000679.2:g.16027600C>T	GRCh38
NC_000017.10:g.15930914C>T , CM000679.1:g.15930914C>T	GRCh37
NC_000017.9:g.15871639C>T	NCBI36
NG_029806.1:g.33221C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.*78C>T MANE Select	ENSP00000261647.5:n.*78C>T
ENST00000261647.9:c.*78C>T	ENSP00000261647.5:n.*78C>T
ENST00000465567.1:n.1615C>T
ENST00000470649.1:c.247+898C>T	ENSP00000465627.1:n.247+898C>T
ENST00000475723.5:c.1405C>T
ENST00000481107.1:n.1889C>T
NM_001271420.1:c.*78C>T	NP_001258349.1:n.*78C>T
NM_017775.3:c.*78C>T	NP_060245.3:n.*78C>T
XM_017024801.2:c.994+898C>T	XP_016880290.2:n.994+898C>T
XM_017024802.2:c.994+898C>T	XP_016880291.2:n.994+898C>T
NM_017775.4:c.*78C>T MANE Select	NP_060245.3:n.*78C>T
NM_001271420.2:c.*78C>T	NP_001258349.1:n.*78C>T