Canonical Allele Identifier: CA2581296544

Gene: TTC19

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16028493G>C , CM000679.2:g.16028493G>C	GRCh38
NC_000017.10:g.15931807G>C , CM000679.1:g.15931807G>C	GRCh37
NC_000017.9:g.15872532G>C	NCBI36
NG_029806.1:g.34114G>C
NG_047111.1:g.193254C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.*971G>C MANE Select	ENSP00000261647.5:n.*971G>C
ENST00000261647.9:c.*971G>C	ENSP00000261647.5:n.*971G>C
ENST00000465567.1:n.2508G>C
ENST00000470649.1:c.247+1791G>C	ENSP00000465627.1:n.247+1791G>C
ENST00000475723.5:c.2298G>C
ENST00000481107.1:n.2782G>C
NM_001271420.1:c.*971G>C	NP_001258349.1:n.*971G>C
NM_017775.3:c.*971G>C	NP_060245.3:n.*971G>C
XM_017024801.2:c.994+1791G>C	XP_016880290.2:n.994+1791G>C
XM_017024802.2:c.994+1791G>C	XP_016880291.2:n.994+1791G>C
NM_017775.4:c.*971G>C MANE Select	NP_060245.3:n.*971G>C
NM_001271420.2:c.*971G>C	NP_001258349.1:n.*971G>C