Canonical Allele Identifier: CA624957571

Gene: TTC19

Linked Data

• dbSNP Id: rs1394290095
• gnomAD v2: 17-15931527-C-T
• gnomAD v4: 17-16028213-C-T
• MyVariant Identifiers: chr17:g.15931527C>T (hg19) ; chr17:g.16028213C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16028213C>T , CM000679.2:g.16028213C>T	GRCh38
NC_000017.10:g.15931527C>T , CM000679.1:g.15931527C>T	GRCh37
NC_000017.9:g.15872252C>T	NCBI36
NG_029806.1:g.33834C>T
NG_047111.1:g.193534G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261647.10:c.*691C>T MANE Select	ENSP00000261647.5:n.*691C>T
ENST00000261647.9:c.*691C>T	ENSP00000261647.5:n.*691C>T
ENST00000465567.1:n.2228C>T
ENST00000470649.1:c.247+1511C>T	ENSP00000465627.1:n.247+1511C>T
ENST00000475723.5:c.2018C>T
ENST00000481107.1:n.2502C>T
NM_001271420.1:c.*691C>T	NP_001258349.1:n.*691C>T
NM_017775.3:c.*691C>T	NP_060245.3:n.*691C>T
XM_017024801.2:c.994+1511C>T	XP_016880290.2:n.994+1511C>T
XM_017024802.2:c.994+1511C>T	XP_016880291.2:n.994+1511C>T
NM_017775.4:c.*691C>T MANE Select	NP_060245.3:n.*691C>T
NM_001271420.2:c.*691C>T	NP_001258349.1:n.*691C>T