Canonical Allele Identifier: CA2636262943

Gene: TTC19

Linked Data

• gnomAD v4: 17-16028512-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16028512T>C , CM000679.2:g.16028512T>C	GRCh38
NC_000017.10:g.15931826T>C , CM000679.1:g.15931826T>C	GRCh37
NC_000017.9:g.15872551T>C	NCBI36
NG_029806.1:g.34133T>C
NG_047111.1:g.193235A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.*990T>C MANE Select	ENSP00000261647.5:n.*990T>C
ENST00000261647.9:c.*990T>C	ENSP00000261647.5:n.*990T>C
ENST00000465567.1:n.2527T>C
ENST00000470649.1:c.247+1810T>C	ENSP00000465627.1:n.247+1810T>C
ENST00000475723.5:c.2317T>C
ENST00000481107.1:n.2801T>C
NM_001271420.1:c.*990T>C	NP_001258349.1:n.*990T>C
NM_017775.3:c.*990T>C	NP_060245.3:n.*990T>C
XM_017024801.2:c.994+1810T>C	XP_016880290.2:n.994+1810T>C
XM_017024802.2:c.994+1810T>C	XP_016880291.2:n.994+1810T>C
NM_017775.4:c.*990T>C MANE Select	NP_060245.3:n.*990T>C
NM_001271420.2:c.*990T>C	NP_001258349.1:n.*990T>C