Canonical Allele Identifier: CA288164751

Gene: TTC19

Linked Data

• dbSNP Id: rs924418134
• gnomAD v3: 17-16027534-T-C
• gnomAD v4: 17-16027534-T-C
• MyVariant Identifiers: chr17:g.15930848T>C (hg19) ; chr17:g.16027534T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16027534T>C , CM000679.2:g.16027534T>C	GRCh38
NC_000017.10:g.15930848T>C , CM000679.1:g.15930848T>C	GRCh37
NC_000017.9:g.15871573T>C	NCBI36
NG_029806.1:g.33155T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.*12T>C MANE Select	ENSP00000261647.5:n.*12T>C
ENST00000261647.9:c.*12T>C	ENSP00000261647.5:n.*12T>C
ENST00000465567.1:n.1549T>C
ENST00000470649.1:c.247+832T>C	ENSP00000465627.1:n.247+832T>C
ENST00000475723.5:c.1339T>C
ENST00000481107.1:n.1823T>C
ENST00000497842.6:n.1359T>C
NM_001271420.1:c.*12T>C	NP_001258349.1:n.*12T>C
NM_017775.3:c.*12T>C	NP_060245.3:n.*12T>C
XM_017024801.2:c.994+832T>C	XP_016880290.2:n.994+832T>C
XM_017024802.2:c.994+832T>C	XP_016880291.2:n.994+832T>C
NM_017775.4:c.*12T>C MANE Select	NP_060245.3:n.*12T>C
NM_001271420.2:c.*12T>C	NP_001258349.1:n.*12T>C