Canonical Allele Identifier: CA398381805

Gene: TTC19

Linked Data

• dbSNP Id: rs1204961921
• gnomAD v2: 17-15903165-G-T
• gnomAD v3: 17-15999851-G-T
• gnomAD v4: 17-15999851-G-T
• MyVariant Identifiers: chr17:g.15903165G>T (hg19) ; chr17:g.15999851G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15999851G>T , CM000679.2:g.15999851G>T	GRCh38
NC_000017.10:g.15903165G>T , CM000679.1:g.15903165G>T	GRCh37
NC_000017.9:g.15843890G>T	NCBI36
NG_029806.1:g.5472G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.3G>T MANE Select	ENSP00000261647.5:p.Met1Ile
ENST00000261647.9:c.3G>T	ENSP00000261647.5:p.Met1Ile
ENST00000466729.5:c.68G>T
ENST00000470399.1:c.18G>T	ENSP00000465082.1:p.Met6Ile
ENST00000475723.5:c.50G>T
ENST00000497842.6:n.28G>T
ENST00000583704.1:n.28G>T
NM_001271420.1:c.-456G>T	NP_001258349.1:n.-456G>T
NM_017775.3:c.3G>T	NP_060245.3:p.Met1Ile
XM_011523950.1:c.3G>T	XP_011522252.1:p.Met1Ile
XM_017024801.2:c.3G>T	XP_016880290.2:p.Met1Ile
XM_017024802.2:c.3G>T	XP_016880291.2:p.Met1Ile
XM_024450814.1:c.3G>T	XP_024306582.1:p.Met1Ile
NM_017775.4:c.3G>T MANE Select	NP_060245.3:p.Met1Ile
NM_001271420.2:c.-456G>T	NP_001258349.1:n.-456G>T