Canonical Allele Identifier: CA398382576

Gene: TTC19

Linked Data

• gnomAD v4: 17-15999990-G-T
• MyVariant Identifiers: chr17:g.15903304G>T (hg19) ; chr17:g.15999990G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15999990G>T , CM000679.2:g.15999990G>T	GRCh38
NC_000017.10:g.15903304G>T , CM000679.1:g.15903304G>T	GRCh37
NC_000017.9:g.15844029G>T	NCBI36
NG_029806.1:g.5611G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.142G>T MANE Select	ENSP00000261647.5:p.Ala48Ser
ENST00000261647.9:c.142G>T	ENSP00000261647.5:p.Ala48Ser
ENST00000466729.5:c.207G>T
ENST00000470399.1:c.157G>T	ENSP00000465082.1:p.Ala53Ser
ENST00000475723.5:c.189G>T
ENST00000497842.6:n.167G>T
ENST00000583704.1:n.167G>T
NM_001271420.1:c.-317G>T	NP_001258349.1:n.-317G>T
NM_017775.3:c.142G>T	NP_060245.3:p.Ala48Ser
XM_011523950.1:c.142G>T	XP_011522252.1:p.Ala48Ser
XM_017024801.2:c.142G>T	XP_016880290.2:p.Ala48Ser
XM_017024802.2:c.142G>T	XP_016880291.2:p.Ala48Ser
XM_024450814.1:c.142G>T	XP_024306582.1:p.Ala48Ser
NM_017775.4:c.142G>T MANE Select	NP_060245.3:p.Ala48Ser
NM_001271420.2:c.-317G>T	NP_001258349.1:n.-317G>T