Canonical Allele Identifier: CA16042283
Gene: TECRL HGNC NCBI

Linked Data

ClinVar Variation Id: 372283
ClinVar RCV Id: RCV000412582
dbSNP Id: rs1057517699
MyVariant Identifiers: chr4:g.65194229C>T (hg19) chr4:g.64328511C>T (hg38)
PubMed: PMID:17666061 PMID:27861123
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.64328511C>T , CM000666.2:g.64328511C>T GRCh38
NC_000004.11:g.65194229C>T , CM000666.1:g.65194229C>T GRCh37
NC_000004.10:g.64876824C>T NCBI36
NG_053152.1:g.85999G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000381210.8:c.331+1G>A MANE Select ENSP00000370607.3:n.331+1G>A
ENST00000381210.7:c.331+1G>A ENSP00000370607.3:n.331+1G>A
ENST00000507440.5:c.331+1G>A ENSP00000426043.1:n.331+1G>A
ENST00000509536.1:c.331+1G>A ENSP00000422497.1:n.331+1G>A
ENST00000511356.1:n.436+1G>A
NM_001010874.4:c.331+1G>A NP_001010874.2:n.331+1G>A
XM_005265662.3:c.287-5719G>A XP_005265719.1:n.287-5719G>A
XM_005265663.2:c.331+1G>A XP_005265720.1:n.331+1G>A
XM_005265664.2:c.331+1G>A XP_005265721.1:n.331+1G>A
XM_005265665.2:c.331+1G>A XP_005265722.1:n.331+1G>A
NM_001363796.1:c.331+1G>A NP_001350725.1:n.331+1G>A
XM_005265662.5:c.287-5719G>A XP_005265719.1:n.287-5719G>A
XM_005265664.3:c.331+1G>A XP_005265721.1:n.331+1G>A
XM_005265665.4:c.331+1G>A XP_005265722.1:n.331+1G>A
XM_017007959.2:c.331+1G>A XP_016863448.1:n.331+1G>A
XM_024453961.1:c.287-5719G>A XP_024309729.1:n.287-5719G>A
XM_024453962.1:c.287-5719G>A XP_024309730.1:n.287-5719G>A
XR_001741192.2:n.435+1G>A
NM_001010874.5:c.331+1G>A MANE Select NP_001010874.2:n.331+1G>A
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