Canonical Allele Identifier: CA398382195

Gene: TTC19

Linked Data

• dbSNP Id: rs1338259730
• gnomAD v4: 17-15999913-G-C
• MyVariant Identifiers: chr17:g.15903227G>C (hg19) ; chr17:g.15999913G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15999913G>C , CM000679.2:g.15999913G>C	GRCh38
NC_000017.10:g.15903227G>C , CM000679.1:g.15903227G>C	GRCh37
NC_000017.9:g.15843952G>C	NCBI36
NG_029806.1:g.5534G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.65G>C MANE Select	ENSP00000261647.5:p.Arg22Pro
ENST00000261647.9:c.65G>C	ENSP00000261647.5:p.Arg22Pro
ENST00000466729.5:c.130G>C
ENST00000470399.1:c.80G>C	ENSP00000465082.1:p.Arg27Pro
ENST00000475723.5:c.112G>C
ENST00000497842.6:n.90G>C
ENST00000583704.1:n.90G>C
NM_001271420.1:c.-394G>C	NP_001258349.1:n.-394G>C
NM_017775.3:c.65G>C	NP_060245.3:p.Arg22Pro
XM_011523950.1:c.65G>C	XP_011522252.1:p.Arg22Pro
XM_017024801.2:c.65G>C	XP_016880290.2:p.Arg22Pro
XM_017024802.2:c.65G>C	XP_016880291.2:p.Arg22Pro
XM_024450814.1:c.65G>C	XP_024306582.1:p.Arg22Pro
NM_017775.4:c.65G>C MANE Select	NP_060245.3:p.Arg22Pro
NM_001271420.2:c.-394G>C	NP_001258349.1:n.-394G>C