Canonical Allele Identifier: CA8407680

Gene: TTC19

Linked Data

• dbSNP Id: rs779126381
• ExAC: 17:15931824 C / T
• gnomAD v2: 17-15931824-C-T
• gnomAD v3: 17-16028510-C-T
• gnomAD v4: 17-16028510-C-T
• MyVariant Identifiers: chr17:g.15931824C>T (hg19) ; chr17:g.15931824_15931826delinsTTT (hg19) ; chr17:g.16028510C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16028510C>T , CM000679.2:g.16028510C>T	GRCh38
NC_000017.10:g.15931824C>T , CM000679.1:g.15931824C>T	GRCh37
NC_000017.9:g.15872549C>T	NCBI36
NG_029806.1:g.34131C>T
NG_047111.1:g.193237G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.*988C>T MANE Select	ENSP00000261647.5:n.*988C>T
ENST00000261647.9:c.*988C>T	ENSP00000261647.5:n.*988C>T
ENST00000465567.1:n.2525C>T
ENST00000470649.1:c.247+1808C>T	ENSP00000465627.1:n.247+1808C>T
ENST00000475723.5:c.2315C>T
ENST00000481107.1:n.2799C>T
NM_001271420.1:c.*988C>T	NP_001258349.1:n.*988C>T
NM_017775.3:c.*988C>T	NP_060245.3:n.*988C>T
XM_017024801.2:c.994+1808C>T	XP_016880290.2:n.994+1808C>T
XM_017024802.2:c.994+1808C>T	XP_016880291.2:n.994+1808C>T
NM_017775.4:c.*988C>T MANE Select	NP_060245.3:n.*988C>T
NM_001271420.2:c.*988C>T	NP_001258349.1:n.*988C>T