Canonical Allele Identifier: CA206843

Gene: TECR

Linked Data

• ClinVar Variation Id: 212396
• ClinVar RCV Id: RCV000193389 ; RCV000950274
• dbSNP Id: rs141619383
• ExAC: 19:14676569 C / T
• gnomAD v2: 19-14676569-C-T
• gnomAD v3: 19-14565757-C-T
• gnomAD v4: 19-14565757-C-T
• MyVariant Identifiers: chr19:g.14676569C>T (hg19) ; chr19:g.14565757C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.14565757C>T , CM000681.2:g.14565757C>T	GRCh38
NC_000019.9:g.14676569C>T , CM000681.1:g.14676569C>T	GRCh37
NC_000019.8:g.14537569C>T	NCBI36
NG_028336.1:g.41191C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215567.10:c.813C>T MANE Select	ENSP00000215567.4:p.Ser271=
ENST00000596073.6:c.927C>T	ENSP00000472697.2:p.Ser309=
ENST00000642961.1:n.950C>T
ENST00000215567.9:c.813C>T	ENSP00000215567.4:p.Ser271=
ENST00000593775.5:n.502C>T
ENST00000594958.1:n.397C>T
ENST00000596073.5:c.348C>T	ENSP00000472697.1:p.Ser116=
ENST00000597607.5:n.943C>T
ENST00000598408.1:n.285C>T
ENST00000598987.5:c.*700C>T	ENSP00000472504.1:n.*700C>T
ENST00000599101.5:n.416C>T
ENST00000600083.5:c.348C>T	ENSP00000472114.1:p.Ser116=
ENST00000600395.5:n.632C>T
ENST00000601187.1:c.339C>T	ENSP00000472957.1:p.Ser113=
ENST00000601350.5:n.523C>T
NM_138501.5:c.813C>T	NP_612510.1:p.Ser271=
NR_038103.1:n.975C>T
NR_038104.1:n.1008C>T
XM_006722945.1:c.912C>T	XP_006723008.1:p.Ser304=
XM_006722947.1:c.858C>T	XP_006723010.1:p.Ser286=
XM_011528442.1:c.876C>T	XP_011526744.1:p.Ser292=
NM_001321170.1:c.858C>T	NP_001308099.1:p.Ser286=
XM_006722945.2:c.912C>T	XP_006723008.1:p.Ser304=
XM_011528442.2:c.876C>T	XP_011526744.1:p.Ser292=
XM_024451790.1:c.1002C>T	XP_024307558.1:p.Ser334=
XM_024451791.1:c.990C>T	XP_024307559.1:p.Ser330=
XM_024451792.1:c.966C>T	XP_024307560.1:p.Ser322=
XM_024451793.1:c.954C>T	XP_024307561.1:p.Ser318=
XM_024451794.1:c.948C>T	XP_024307562.1:p.Ser316=
XM_024451795.1:c.936C>T	XP_024307563.1:p.Ser312=
XM_024451796.1:c.903C>T	XP_024307564.1:p.Ser301=
XM_024451797.1:c.891C>T	XP_024307565.1:p.Ser297=
XM_024451798.1:c.426C>T	XP_024307566.1:p.Ser142=
XM_024451799.1:c.426C>T	XP_024307567.1:p.Ser142=
XM_024451800.1:c.348C>T	XP_024307568.1:p.Ser116=
NM_138501.6:c.813C>T MANE Select	NP_612510.1:p.Ser271=