Canonical Allele Identifier: CA398388319

Gene: TTC19

Linked Data

• MyVariant Identifiers: chr17:g.15909792G>C (hg19) ; chr17:g.16006478G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16006478G>C , CM000679.2:g.16006478G>C	GRCh38
NC_000017.10:g.15909792G>C , CM000679.1:g.15909792G>C	GRCh37
NC_000017.9:g.15850517G>C	NCBI36
NG_029806.1:g.12099G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.586G>C MANE Select	ENSP00000261647.5:p.Glu196Gln
ENST00000261647.9:c.586G>C	ENSP00000261647.5:p.Glu196Gln
ENST00000475723.5:c.770G>C
ENST00000497842.6:n.696G>C
NM_001271420.1:c.265G>C	NP_001258349.1:p.Glu89Gln
NM_017775.3:c.586G>C	NP_060245.3:p.Glu196Gln
XM_011523950.1:c.586G>C	XP_011522252.1:p.Glu196Gln
XR_934261.1:n.1791+685C>G
XM_017024801.2:c.586G>C	XP_016880290.2:p.Glu196Gln
XM_017024802.2:c.586G>C	XP_016880291.2:p.Glu196Gln
XM_024450814.1:c.586G>C	XP_024306582.1:p.Glu196Gln
NM_017775.4:c.586G>C MANE Select	NP_060245.3:p.Glu196Gln
NM_001271420.2:c.265G>C	NP_001258349.1:p.Glu89Gln