Canonical Allele Identifier: CA206797

Gene: TECR

Linked Data

• ClinVar Variation Id: 212393
• ClinVar RCV Id: RCV000193362 ; RCV002500596 ; RCV003417703
• dbSNP Id: rs113855270
• ExAC: 19:14673322 G / A
• gnomAD v2: 19-14673322-G-A
• gnomAD v3: 19-14562510-G-A
• gnomAD v4: 19-14562510-G-A
• MyVariant Identifiers: chr19:g.14673322G>A (hg19) ; chr19:g.14562510G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.14562510G>A , CM000681.2:g.14562510G>A	GRCh38
NC_000019.9:g.14673322G>A , CM000681.1:g.14673322G>A	GRCh37
NC_000019.8:g.14534322G>A	NCBI36
NG_028336.1:g.37944G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215567.10:c.16-15G>A MANE Select	ENSP00000215567.4:n.16-15G>A
ENST00000596073.6:c.115G>A	ENSP00000472697.2:p.Val39Ile
ENST00000642961.1:n.121-15G>A
ENST00000215567.9:c.16-15G>A	ENSP00000215567.4:n.16-15G>A
ENST00000593637.5:n.103-15G>A
ENST00000594545.5:c.-450-15G>A	ENSP00000469343.1:n.-450-15G>A
ENST00000594807.5:n.83-15G>A
ENST00000596073.5:c.-482-15G>A	ENSP00000472697.1:n.-482-15G>A
ENST00000596164.5:n.16-15G>A
ENST00000596953.5:n.72-15G>A
ENST00000597607.5:n.56-15G>A
ENST00000598298.5:c.-450-15G>A	ENSP00000471341.1:n.-450-15G>A
ENST00000598333.5:c.16-15G>A	ENSP00000473129.1:n.16-15G>A
ENST00000598715.5:c.20-15G>A	ENSP00000469263.1:n.20-15G>A
ENST00000598918.5:c.20-15G>A	ENSP00000473033.1:n.20-15G>A
ENST00000598987.5:c.83-15G>A	ENSP00000472504.1:n.83-15G>A
ENST00000600076.5:n.301-15G>A
ENST00000600083.5:c.-515-15G>A	ENSP00000472114.1:n.-515-15G>A
ENST00000601461.1:n.71-15G>A
ENST00000601652.5:n.115-15G>A
NM_138501.5:c.16-15G>A	NP_612510.1:n.16-15G>A
NR_038103.1:n.146-15G>A
NR_038104.1:n.146-15G>A
XM_006722945.1:c.83-15G>A	XP_006723008.1:n.83-15G>A
XM_006722947.1:c.61-15G>A	XP_006723010.1:n.61-15G>A
XM_011528442.1:c.79-15G>A	XP_011526744.1:n.79-15G>A
XR_936352.1:n.11+367C>T
NM_001321170.1:c.61-15G>A	NP_001308099.1:n.61-15G>A
XM_006722945.2:c.83-15G>A	XP_006723008.1:n.83-15G>A
XM_011528442.2:c.79-15G>A	XP_011526744.1:n.79-15G>A
XM_024451790.1:c.83-15G>A	XP_024307558.1:n.83-15G>A
XM_024451791.1:c.83-15G>A	XP_024307559.1:n.83-15G>A
XM_024451792.1:c.79-15G>A	XP_024307560.1:n.79-15G>A
XM_024451793.1:c.79-15G>A	XP_024307561.1:n.79-15G>A
XM_024451794.1:c.61-15G>A	XP_024307562.1:n.61-15G>A
XM_024451795.1:c.61-15G>A	XP_024307563.1:n.61-15G>A
XM_024451796.1:c.16-15G>A	XP_024307564.1:n.16-15G>A
XM_024451797.1:c.16-15G>A	XP_024307565.1:n.16-15G>A
XM_024451798.1:c.-450-15G>A	XP_024307566.1:n.-450-15G>A
XM_024451799.1:c.-482-15G>A	XP_024307567.1:n.-482-15G>A
XM_024451800.1:c.-450-15G>A	XP_024307568.1:n.-450-15G>A
NM_138501.6:c.16-15G>A MANE Select	NP_612510.1:n.16-15G>A