Canonical Allele Identifier: CA498414426

Gene: TTC19

Linked Data

• gnomAD v4: 17-16000017-C-T
• MyVariant Identifiers: chr17:g.15903331C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16000017C>T , CM000679.2:g.16000017C>T	GRCh38
NC_000017.10:g.15903331C>T , CM000679.1:g.15903331C>T	GRCh37
NC_000017.9:g.15844056C>T	NCBI36
NG_029806.1:g.5638C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.169C>T MANE Select	ENSP00000261647.5:p.Leu57=
ENST00000261647.9:c.169C>T	ENSP00000261647.5:p.Leu57=
ENST00000466729.5:c.234C>T
ENST00000470399.1:c.184C>T	ENSP00000465082.1:p.Leu62=
ENST00000475723.5:c.216C>T
ENST00000497842.6:n.194C>T
ENST00000583704.1:n.194C>T
NM_001271420.1:c.-290C>T	NP_001258349.1:n.-290C>T
NM_017775.3:c.169C>T	NP_060245.3:p.Leu57=
XM_011523950.1:c.169C>T	XP_011522252.1:p.Leu57=
XM_017024801.2:c.169C>T	XP_016880290.2:p.Leu57=
XM_017024802.2:c.169C>T	XP_016880291.2:p.Leu57=
XM_024450814.1:c.169C>T	XP_024306582.1:p.Leu57=
NM_017775.4:c.169C>T MANE Select	NP_060245.3:p.Leu57=
NM_001271420.2:c.-290C>T	NP_001258349.1:n.-290C>T