Canonical Allele Identifier: CA8407639

Gene: TTC19

Linked Data

• dbSNP Id: rs370259488
• ExAC: 17:15931002 T / C
• gnomAD v2: 17-15931002-T-C
• gnomAD v3: 17-16027688-T-C
• gnomAD v4: 17-16027688-T-C
• MyVariant Identifiers: chr17:g.15931002T>C (hg19) ; chr17:g.16027688T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16027688T>C , CM000679.2:g.16027688T>C	GRCh38
NC_000017.10:g.15931002T>C , CM000679.1:g.15931002T>C	GRCh37
NC_000017.9:g.15871727T>C	NCBI36
NG_029806.1:g.33309T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.*166T>C MANE Select	ENSP00000261647.5:n.*166T>C
ENST00000261647.9:c.*166T>C	ENSP00000261647.5:n.*166T>C
ENST00000465567.1:n.1703T>C
ENST00000470649.1:c.247+986T>C	ENSP00000465627.1:n.247+986T>C
ENST00000475723.5:c.1493T>C
ENST00000481107.1:n.1977T>C
NM_001271420.1:c.*166T>C	NP_001258349.1:n.*166T>C
NM_017775.3:c.*166T>C	NP_060245.3:n.*166T>C
XM_017024801.2:c.994+986T>C	XP_016880290.2:n.994+986T>C
XM_017024802.2:c.994+986T>C	XP_016880291.2:n.994+986T>C
NM_017775.4:c.*166T>C MANE Select	NP_060245.3:n.*166T>C
NM_001271420.2:c.*166T>C	NP_001258349.1:n.*166T>C