Canonical Allele Identifier: CA288164755

Gene: TTC19

Linked Data

• dbSNP Id: rs866058162
• gnomAD v4: 17-16027560-T-G
• MyVariant Identifiers: chr17:g.15930874T>G (hg19) ; chr17:g.16027560T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16027560T>G , CM000679.2:g.16027560T>G	GRCh38
NC_000017.10:g.15930874T>G , CM000679.1:g.15930874T>G	GRCh37
NC_000017.9:g.15871599T>G	NCBI36
NG_029806.1:g.33181T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.*38T>G MANE Select	ENSP00000261647.5:n.*38T>G
ENST00000261647.9:c.*38T>G	ENSP00000261647.5:n.*38T>G
ENST00000465567.1:n.1575T>G
ENST00000470649.1:c.247+858T>G	ENSP00000465627.1:n.247+858T>G
ENST00000475723.5:c.1365T>G
ENST00000481107.1:n.1849T>G
NM_001271420.1:c.*38T>G	NP_001258349.1:n.*38T>G
NM_017775.3:c.*38T>G	NP_060245.3:n.*38T>G
XM_017024801.2:c.994+858T>G	XP_016880290.2:n.994+858T>G
XM_017024802.2:c.994+858T>G	XP_016880291.2:n.994+858T>G
NM_017775.4:c.*38T>G MANE Select	NP_060245.3:n.*38T>G
NM_001271420.2:c.*38T>G	NP_001258349.1:n.*38T>G