Canonical Allele Identifier: CA9255238

Gene: TECR

Linked Data

• ClinVar Variation Id: 436974
• ClinVar RCV Id: RCV000503009
• dbSNP Id: rs551375507
• ExAC: 19:14675812 G / A
• gnomAD v2: 19-14675812-G-A
• gnomAD v3: 19-14565000-G-A
• gnomAD v4: 19-14565000-G-A
• MyVariant Identifiers: chr19:g.14675812G>A (hg19) ; chr19:g.14565000G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.14565000G>A , CM000681.2:g.14565000G>A	GRCh38
NC_000019.9:g.14675812G>A , CM000681.1:g.14675812G>A	GRCh37
NC_000019.8:g.14536812G>A	NCBI36
NG_028336.1:g.40434G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215567.10:c.606+8G>A MANE Select	ENSP00000215567.4:n.606+8G>A
ENST00000596073.6:c.720+8G>A	ENSP00000472697.2:n.720+8G>A
ENST00000642961.1:n.743+8G>A
ENST00000215567.9:c.606+8G>A	ENSP00000215567.4:n.606+8G>A
ENST00000593637.5:n.785G>A
ENST00000593775.5:n.295+8G>A
ENST00000594958.1:n.32+8G>A
ENST00000596073.5:c.141+8G>A	ENSP00000472697.1:n.141+8G>A
ENST00000596953.5:n.760G>A
ENST00000597607.5:n.736+8G>A
ENST00000598333.5:c.*253+8G>A	ENSP00000473129.1:n.*253+8G>A
ENST00000598408.1:n.59G>A
ENST00000598987.5:c.*493+8G>A	ENSP00000472504.1:n.*493+8G>A
ENST00000599101.5:n.209+8G>A
ENST00000600083.5:c.141+8G>A	ENSP00000472114.1:n.141+8G>A
ENST00000600395.5:n.347+8G>A
ENST00000601187.1:c.133-66G>A	ENSP00000472957.1:n.133-66G>A
ENST00000601350.5:n.251G>A
ENST00000601461.1:n.788G>A
NM_138501.5:c.606+8G>A	NP_612510.1:n.606+8G>A
NR_038103.1:n.768+8G>A
NR_038104.1:n.801+8G>A
XM_006722945.1:c.705+8G>A	XP_006723008.1:n.705+8G>A
XM_006722947.1:c.651+8G>A	XP_006723010.1:n.651+8G>A
XM_011528442.1:c.669+8G>A	XP_011526744.1:n.669+8G>A
NM_001321170.1:c.651+8G>A	NP_001308099.1:n.651+8G>A
XM_006722945.2:c.705+8G>A	XP_006723008.1:n.705+8G>A
XM_011528442.2:c.669+8G>A	XP_011526744.1:n.669+8G>A
XM_024451790.1:c.795+8G>A	XP_024307558.1:n.795+8G>A
XM_024451791.1:c.705+8G>A	XP_024307559.1:n.705+8G>A
XM_024451792.1:c.759+8G>A	XP_024307560.1:n.759+8G>A
XM_024451793.1:c.669+8G>A	XP_024307561.1:n.669+8G>A
XM_024451794.1:c.741+8G>A	XP_024307562.1:n.741+8G>A
XM_024451795.1:c.651+8G>A	XP_024307563.1:n.651+8G>A
XM_024451796.1:c.696+8G>A	XP_024307564.1:n.696+8G>A
XM_024451797.1:c.606+8G>A	XP_024307565.1:n.606+8G>A
XM_024451798.1:c.141+8G>A	XP_024307566.1:n.141+8G>A
XM_024451799.1:c.141+8G>A	XP_024307567.1:n.141+8G>A
XM_024451800.1:c.141+8G>A	XP_024307568.1:n.141+8G>A
NM_138501.6:c.606+8G>A MANE Select	NP_612510.1:n.606+8G>A