Canonical Allele Identifier: CA2581296542
Gene: TTC19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.16028379G>C , CM000679.2:g.16028379G>C GRCh38
NC_000017.10:g.15931693G>C , CM000679.1:g.15931693G>C GRCh37
NC_000017.9:g.15872418G>C NCBI36
NG_029806.1:g.34000G>C
NG_047111.1:g.193368C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261647.10:c.*857G>C MANE Select ENSP00000261647.5:n.*857G>C
ENST00000261647.9:c.*857G>C ENSP00000261647.5:n.*857G>C
ENST00000465567.1:n.2394G>C
ENST00000470649.1:c.247+1677G>C ENSP00000465627.1:n.247+1677G>C
ENST00000475723.5:c.2184G>C
ENST00000481107.1:n.2668G>C
NM_001271420.1:c.*857G>C NP_001258349.1:n.*857G>C
NM_017775.3:c.*857G>C NP_060245.3:n.*857G>C
XM_017024801.2:c.994+1677G>C XP_016880290.2:n.994+1677G>C
XM_017024802.2:c.994+1677G>C XP_016880291.2:n.994+1677G>C
NM_017775.4:c.*857G>C MANE Select NP_060245.3:n.*857G>C
NM_001271420.2:c.*857G>C NP_001258349.1:n.*857G>C