Canonical Allele Identifier: CA8407232

Gene: TTC19

Linked Data

• ClinVar Variation Id: 488973
• ClinVar RCV Id: RCV000578496 ; RCV001267140 ; RCV002248791
• dbSNP Id: rs749196122
• ExAC: 17:15903163 A / G
• gnomAD v2: 17-15903163-A-G
• gnomAD v3: 17-15999849-A-G
• gnomAD v4: 17-15999849-A-G
• MyVariant Identifiers: chr17:g.15903163A>G (hg19) ; chr17:g.15999849A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15999849A>G , CM000679.2:g.15999849A>G	GRCh38
NC_000017.10:g.15903163A>G , CM000679.1:g.15903163A>G	GRCh37
NC_000017.9:g.15843888A>G	NCBI36
NG_029806.1:g.5470A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261647.10:c.1A>G MANE Select	ENSP00000261647.5:p.Met1Val
ENST00000261647.9:c.1A>G	ENSP00000261647.5:p.Met1Val
ENST00000466729.5:c.66A>G
ENST00000470399.1:c.16A>G	ENSP00000465082.1:p.Met6Val
ENST00000475723.5:c.48A>G
ENST00000497842.6:n.26A>G
ENST00000583704.1:n.26A>G
NM_001271420.1:c.-458A>G	NP_001258349.1:n.-458A>G
NM_017775.3:c.1A>G	NP_060245.3:p.Met1Val
XM_011523950.1:c.1A>G	XP_011522252.1:p.Met1Val
XM_017024801.2:c.1A>G	XP_016880290.2:p.Met1Val
XM_017024802.2:c.1A>G	XP_016880291.2:p.Met1Val
XM_024450814.1:c.1A>G	XP_024306582.1:p.Met1Val
NM_017775.4:c.1A>G MANE Select	NP_060245.3:p.Met1Val
NM_001271420.2:c.-458A>G	NP_001258349.1:n.-458A>G