Canonical Allele Identifier: CA398382485

Gene: TTC19

Linked Data

• ClinVar Variation Id: 1713512
• ClinVar RCV Id: RCV002295522
• MyVariant Identifiers: chr17:g.15903285G>C (hg19) ; chr17:g.15999971G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15999971G>C , CM000679.2:g.15999971G>C	GRCh38
NC_000017.10:g.15903285G>C , CM000679.1:g.15903285G>C	GRCh37
NC_000017.9:g.15844010G>C	NCBI36
NG_029806.1:g.5592G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.123G>C MANE Select	ENSP00000261647.5:p.Gln41His
ENST00000261647.9:c.123G>C	ENSP00000261647.5:p.Gln41His
ENST00000466729.5:c.188G>C
ENST00000470399.1:c.138G>C	ENSP00000465082.1:p.Gln46His
ENST00000475723.5:c.170G>C
ENST00000497842.6:n.148G>C
ENST00000583704.1:n.148G>C
NM_001271420.1:c.-336G>C	NP_001258349.1:n.-336G>C
NM_017775.3:c.123G>C	NP_060245.3:p.Gln41His
XM_011523950.1:c.123G>C	XP_011522252.1:p.Gln41His
XM_017024801.2:c.123G>C	XP_016880290.2:p.Gln41His
XM_017024802.2:c.123G>C	XP_016880291.2:p.Gln41His
XM_024450814.1:c.123G>C	XP_024306582.1:p.Gln41His
NM_017775.4:c.123G>C MANE Select	NP_060245.3:p.Gln41His
NM_001271420.2:c.-336G>C	NP_001258349.1:n.-336G>C