Canonical Allele Identifier: CA208584

Gene: TECR

Linked Data

• ClinVar Variation Id: 212397
• ClinVar RCV Id: RCV000194423 ; RCV003422100
• dbSNP Id: rs147656694
• ExAC: 19:14676629 G / A
• gnomAD v2: 19-14676629-G-A
• gnomAD v3: 19-14565817-G-A
• gnomAD v4: 19-14565817-G-A
• MyVariant Identifiers: chr19:g.14676629G>A (hg19) ; chr19:g.14565817G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.14565817G>A , CM000681.2:g.14565817G>A	GRCh38
NC_000019.9:g.14676629G>A , CM000681.1:g.14676629G>A	GRCh37
NC_000019.8:g.14537629G>A	NCBI36
NG_028336.1:g.41251G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215567.10:c.873G>A MANE Select	ENSP00000215567.4:p.Lys291=
ENST00000596073.6:c.987G>A	ENSP00000472697.2:p.Lys329=
ENST00000642961.1:n.1010G>A
ENST00000215567.9:c.873G>A	ENSP00000215567.4:p.Lys291=
ENST00000593775.5:n.562G>A
ENST00000594958.1:n.457G>A
ENST00000596073.5:c.408G>A	ENSP00000472697.1:p.Lys136=
ENST00000597607.5:n.1003G>A
ENST00000598408.1:n.345G>A
ENST00000598987.5:c.*760G>A	ENSP00000472504.1:n.*760G>A
ENST00000599101.5:n.476G>A
ENST00000600083.5:c.408G>A	ENSP00000472114.1:p.Lys136=
ENST00000600395.5:n.692G>A
ENST00000601187.1:c.399G>A	ENSP00000472957.1:p.Lys133=
ENST00000601350.5:n.583G>A
NM_138501.5:c.873G>A	NP_612510.1:p.Lys291=
NR_038103.1:n.1035G>A
NR_038104.1:n.1068G>A
XM_006722945.1:c.972G>A	XP_006723008.1:p.Lys324=
XM_006722947.1:c.918G>A	XP_006723010.1:p.Lys306=
XM_011528442.1:c.936G>A	XP_011526744.1:p.Lys312=
NM_001321170.1:c.918G>A	NP_001308099.1:p.Lys306=
XM_006722945.2:c.972G>A	XP_006723008.1:p.Lys324=
XM_011528442.2:c.936G>A	XP_011526744.1:p.Lys312=
XM_024451790.1:c.1062G>A	XP_024307558.1:p.Lys354=
XM_024451791.1:c.1050G>A	XP_024307559.1:p.Lys350=
XM_024451792.1:c.1026G>A	XP_024307560.1:p.Lys342=
XM_024451793.1:c.1014G>A	XP_024307561.1:p.Lys338=
XM_024451794.1:c.1008G>A	XP_024307562.1:p.Lys336=
XM_024451795.1:c.996G>A	XP_024307563.1:p.Lys332=
XM_024451796.1:c.963G>A	XP_024307564.1:p.Lys321=
XM_024451797.1:c.951G>A	XP_024307565.1:p.Lys317=
XM_024451798.1:c.486G>A	XP_024307566.1:p.Lys162=
XM_024451799.1:c.486G>A	XP_024307567.1:p.Lys162=
XM_024451800.1:c.408G>A	XP_024307568.1:p.Lys136=
NM_138501.6:c.873G>A MANE Select	NP_612510.1:p.Lys291=