Canonical Allele Identifier: CA398382618

Gene: TTC19

Linked Data

• dbSNP Id: rs1293400029
• gnomAD v2: 17-15903314-G-A
• gnomAD v4: 17-16000000-G-A
• MyVariant Identifiers: chr17:g.15903314G>A (hg19) ; chr17:g.16000000G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16000000G>A , CM000679.2:g.16000000G>A	GRCh38
NC_000017.10:g.15903314G>A , CM000679.1:g.15903314G>A	GRCh37
NC_000017.9:g.15844039G>A	NCBI36
NG_029806.1:g.5621G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.152G>A MANE Select	ENSP00000261647.5:p.Gly51Asp
ENST00000261647.9:c.152G>A	ENSP00000261647.5:p.Gly51Asp
ENST00000466729.5:c.217G>A
ENST00000470399.1:c.167G>A	ENSP00000465082.1:p.Gly56Asp
ENST00000475723.5:c.199G>A
ENST00000497842.6:n.177G>A
ENST00000583704.1:n.177G>A
NM_001271420.1:c.-307G>A	NP_001258349.1:n.-307G>A
NM_017775.3:c.152G>A	NP_060245.3:p.Gly51Asp
XM_011523950.1:c.152G>A	XP_011522252.1:p.Gly51Asp
XM_017024801.2:c.152G>A	XP_016880290.2:p.Gly51Asp
XM_017024802.2:c.152G>A	XP_016880291.2:p.Gly51Asp
XM_024450814.1:c.152G>A	XP_024306582.1:p.Gly51Asp
NM_017775.4:c.152G>A MANE Select	NP_060245.3:p.Gly51Asp
NM_001271420.2:c.-307G>A	NP_001258349.1:n.-307G>A