Canonical Allele Identifier: CA8407617

Gene: TTC19

Linked Data

• dbSNP Id: rs769843511
• ExAC: 17:15930893 C / T
• gnomAD v2: 17-15930893-C-T
• gnomAD v3: 17-16027579-C-T
• gnomAD v4: 17-16027579-C-T
• MyVariant Identifiers: chr17:g.15930893C>T (hg19) ; chr17:g.16027579C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16027579C>T , CM000679.2:g.16027579C>T	GRCh38
NC_000017.10:g.15930893C>T , CM000679.1:g.15930893C>T	GRCh37
NC_000017.9:g.15871618C>T	NCBI36
NG_029806.1:g.33200C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.*57C>T MANE Select	ENSP00000261647.5:n.*57C>T
ENST00000261647.9:c.*57C>T	ENSP00000261647.5:n.*57C>T
ENST00000465567.1:n.1594C>T
ENST00000470649.1:c.247+877C>T	ENSP00000465627.1:n.247+877C>T
ENST00000475723.5:c.1384C>T
ENST00000481107.1:n.1868C>T
NM_001271420.1:c.*57C>T	NP_001258349.1:n.*57C>T
NM_017775.3:c.*57C>T	NP_060245.3:n.*57C>T
XM_017024801.2:c.994+877C>T	XP_016880290.2:n.994+877C>T
XM_017024802.2:c.994+877C>T	XP_016880291.2:n.994+877C>T
NM_017775.4:c.*57C>T MANE Select	NP_060245.3:n.*57C>T
NM_001271420.2:c.*57C>T	NP_001258349.1:n.*57C>T