Canonical Allele Identifier: CA398382479

Gene: TTC19

Linked Data

• gnomAD v4: 17-15999970-A-C
• MyVariant Identifiers: chr17:g.15903284A>C (hg19) ; chr17:g.15999970A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15999970A>C , CM000679.2:g.15999970A>C	GRCh38
NC_000017.10:g.15903284A>C , CM000679.1:g.15903284A>C	GRCh37
NC_000017.9:g.15844009A>C	NCBI36
NG_029806.1:g.5591A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.122A>C MANE Select	ENSP00000261647.5:p.Gln41Pro
ENST00000261647.9:c.122A>C	ENSP00000261647.5:p.Gln41Pro
ENST00000466729.5:c.187A>C
ENST00000470399.1:c.137A>C	ENSP00000465082.1:p.Gln46Pro
ENST00000475723.5:c.169A>C
ENST00000497842.6:n.147A>C
ENST00000583704.1:n.147A>C
NM_001271420.1:c.-337A>C	NP_001258349.1:n.-337A>C
NM_017775.3:c.122A>C	NP_060245.3:p.Gln41Pro
XM_011523950.1:c.122A>C	XP_011522252.1:p.Gln41Pro
XM_017024801.2:c.122A>C	XP_016880290.2:p.Gln41Pro
XM_017024802.2:c.122A>C	XP_016880291.2:p.Gln41Pro
XM_024450814.1:c.122A>C	XP_024306582.1:p.Gln41Pro
NM_017775.4:c.122A>C MANE Select	NP_060245.3:p.Gln41Pro
NM_001271420.2:c.-337A>C	NP_001258349.1:n.-337A>C