Canonical Allele Identifier: CA288165704

Gene: TTC19

Linked Data

• dbSNP Id: rs939426958
• gnomAD v2: 17-15931823-A-G
• gnomAD v3: 17-16028509-A-G
• gnomAD v4: 17-16028509-A-G
• MyVariant Identifiers: chr17:g.15931823A>G (hg19) ; chr17:g.16028509A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16028509A>G , CM000679.2:g.16028509A>G	GRCh38
NC_000017.10:g.15931823A>G , CM000679.1:g.15931823A>G	GRCh37
NC_000017.9:g.15872548A>G	NCBI36
NG_029806.1:g.34130A>G
NG_047111.1:g.193238T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.*987A>G MANE Select	ENSP00000261647.5:n.*987A>G
ENST00000261647.9:c.*987A>G	ENSP00000261647.5:n.*987A>G
ENST00000465567.1:n.2524A>G
ENST00000470649.1:c.247+1807A>G	ENSP00000465627.1:n.247+1807A>G
ENST00000475723.5:c.2314A>G
ENST00000481107.1:n.2798A>G
NM_001271420.1:c.*987A>G	NP_001258349.1:n.*987A>G
NM_017775.3:c.*987A>G	NP_060245.3:n.*987A>G
XM_017024801.2:c.994+1807A>G	XP_016880290.2:n.994+1807A>G
XM_017024802.2:c.994+1807A>G	XP_016880291.2:n.994+1807A>G
NM_017775.4:c.*987A>G MANE Select	NP_060245.3:n.*987A>G
NM_001271420.2:c.*987A>G	NP_001258349.1:n.*987A>G