Canonical Allele Identifier: CA398381900

Gene: TTC19

Linked Data

• dbSNP Id: rs1374379212
• gnomAD v4: 17-15999866-C-G
• MyVariant Identifiers: chr17:g.15903180C>G (hg19) ; chr17:g.15999866C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15999866C>G , CM000679.2:g.15999866C>G	GRCh38
NC_000017.10:g.15903180C>G , CM000679.1:g.15903180C>G	GRCh37
NC_000017.9:g.15843905C>G	NCBI36
NG_029806.1:g.5487C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.18C>G MANE Select	ENSP00000261647.5:p.Ser6Arg
ENST00000261647.9:c.18C>G	ENSP00000261647.5:p.Ser6Arg
ENST00000466729.5:c.83C>G
ENST00000470399.1:c.33C>G	ENSP00000465082.1:p.Ser11Arg
ENST00000475723.5:c.65C>G
ENST00000497842.6:n.43C>G
ENST00000583704.1:n.43C>G
NM_001271420.1:c.-441C>G	NP_001258349.1:n.-441C>G
NM_017775.3:c.18C>G	NP_060245.3:p.Ser6Arg
XM_011523950.1:c.18C>G	XP_011522252.1:p.Ser6Arg
XM_017024801.2:c.18C>G	XP_016880290.2:p.Ser6Arg
XM_017024802.2:c.18C>G	XP_016880291.2:p.Ser6Arg
XM_024450814.1:c.18C>G	XP_024306582.1:p.Ser6Arg
NM_017775.4:c.18C>G MANE Select	NP_060245.3:p.Ser6Arg
NM_001271420.2:c.-441C>G	NP_001258349.1:n.-441C>G