Canonical Allele Identifier: CA398379513

Gene: TTC19

Linked Data

• dbSNP Id: rs1971607094
• gnomAD v4: 17-16027500-T-C
• MyVariant Identifiers: chr17:g.15930814T>C (hg19) ; chr17:g.16027500T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16027500T>C , CM000679.2:g.16027500T>C	GRCh38
NC_000017.10:g.15930814T>C , CM000679.1:g.15930814T>C	GRCh37
NC_000017.9:g.15871539T>C	NCBI36
NG_029806.1:g.33121T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.1121T>C MANE Select	ENSP00000261647.5:p.Leu374Ser
ENST00000261647.9:c.1121T>C	ENSP00000261647.5:p.Leu374Ser
ENST00000465567.1:n.1515T>C
ENST00000470649.1:c.247+798T>C	ENSP00000465627.1:n.247+798T>C
ENST00000475723.5:c.1305T>C
ENST00000481107.1:n.1789T>C
ENST00000497842.6:n.1325T>C
NM_001271420.1:c.800T>C	NP_001258349.1:p.Leu267Ser
NM_017775.3:c.1121T>C	NP_060245.3:p.Leu374Ser
XM_017024801.2:c.994+798T>C	XP_016880290.2:n.994+798T>C
XM_017024802.2:c.994+798T>C	XP_016880291.2:n.994+798T>C
NM_017775.4:c.1121T>C MANE Select	NP_060245.3:p.Leu374Ser
NM_001271420.2:c.800T>C	NP_001258349.1:p.Leu267Ser