Canonical Allele Identifier: CA398379502

Gene: TTC19

Linked Data

• dbSNP Id: rs1322310939
• gnomAD v2: 17-15930813-T-A
• gnomAD v4: 17-16027499-T-A
• MyVariant Identifiers: chr17:g.15930813T>A (hg19) ; chr17:g.16027499T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16027499T>A , CM000679.2:g.16027499T>A	GRCh38
NC_000017.10:g.15930813T>A , CM000679.1:g.15930813T>A	GRCh37
NC_000017.9:g.15871538T>A	NCBI36
NG_029806.1:g.33120T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.1120T>A MANE Select	ENSP00000261647.5:p.Leu374Met
ENST00000261647.9:c.1120T>A	ENSP00000261647.5:p.Leu374Met
ENST00000465567.1:n.1514T>A
ENST00000470649.1:c.247+797T>A	ENSP00000465627.1:n.247+797T>A
ENST00000475723.5:c.1304T>A
ENST00000481107.1:n.1788T>A
ENST00000497842.6:n.1324T>A
NM_001271420.1:c.799T>A	NP_001258349.1:p.Leu267Met
NM_017775.3:c.1120T>A	NP_060245.3:p.Leu374Met
XM_017024801.2:c.994+797T>A	XP_016880290.2:n.994+797T>A
XM_017024802.2:c.994+797T>A	XP_016880291.2:n.994+797T>A
NM_017775.4:c.1120T>A MANE Select	NP_060245.3:p.Leu374Met
NM_001271420.2:c.799T>A	NP_001258349.1:p.Leu267Met