Canonical Allele Identifier: CA288165683

Gene: TTC19

Linked Data

• dbSNP Id: rs71358385
• gnomAD v2: 17-15931791-C-T
• gnomAD v4: 17-16028477-C-T
• MyVariant Identifiers: chr17:g.15931791C>T (hg19) ; chr17:g.16028477C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16028477C>T , CM000679.2:g.16028477C>T	GRCh38
NC_000017.10:g.15931791C>T , CM000679.1:g.15931791C>T	GRCh37
NC_000017.9:g.15872516C>T	NCBI36
NG_029806.1:g.34098C>T
NG_047111.1:g.193270G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.*955C>T MANE Select	ENSP00000261647.5:n.*955C>T
ENST00000261647.9:c.*955C>T	ENSP00000261647.5:n.*955C>T
ENST00000465567.1:n.2492C>T
ENST00000470649.1:c.247+1775C>T	ENSP00000465627.1:n.247+1775C>T
ENST00000475723.5:c.2282C>T
ENST00000481107.1:n.2766C>T
NM_001271420.1:c.*955C>T	NP_001258349.1:n.*955C>T
NM_017775.3:c.*955C>T	NP_060245.3:n.*955C>T
XM_017024801.2:c.994+1775C>T	XP_016880290.2:n.994+1775C>T
XM_017024802.2:c.994+1775C>T	XP_016880291.2:n.994+1775C>T
NM_017775.4:c.*955C>T MANE Select	NP_060245.3:n.*955C>T
NM_001271420.2:c.*955C>T	NP_001258349.1:n.*955C>T