Canonical Allele Identifier: CA398379422

Gene: TTC19

Linked Data

• dbSNP Id: rs1428995654
• gnomAD v2: 17-15930805-G-C
• gnomAD v4: 17-16027491-G-C
• MyVariant Identifiers: chr17:g.15930805G>C (hg19) ; chr17:g.16027491G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16027491G>C , CM000679.2:g.16027491G>C	GRCh38
NC_000017.10:g.15930805G>C , CM000679.1:g.15930805G>C	GRCh37
NC_000017.9:g.15871530G>C	NCBI36
NG_029806.1:g.33112G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.1112G>C MANE Select	ENSP00000261647.5:p.Ser371Thr
ENST00000261647.9:c.1112G>C	ENSP00000261647.5:p.Ser371Thr
ENST00000465567.1:n.1506G>C
ENST00000470649.1:c.247+789G>C	ENSP00000465627.1:n.247+789G>C
ENST00000475723.5:c.1296G>C
ENST00000481107.1:n.1780G>C
ENST00000497842.6:n.1316G>C
NM_001271420.1:c.791G>C	NP_001258349.1:p.Ser264Thr
NM_017775.3:c.1112G>C	NP_060245.3:p.Ser371Thr
XM_017024801.2:c.994+789G>C	XP_016880290.2:n.994+789G>C
XM_017024802.2:c.994+789G>C	XP_016880291.2:n.994+789G>C
NM_017775.4:c.1112G>C MANE Select	NP_060245.3:p.Ser371Thr
NM_001271420.2:c.791G>C	NP_001258349.1:p.Ser264Thr