Canonical Allele Identifier: CA2697555064
Gene: MTR HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236795753C>A , CM000663.2:g.236795753C>A GRCh38
NC_000001.10:g.236959053C>A , CM000663.1:g.236959053C>A GRCh37
NC_000001.9:g.235025676C>A NCBI36
NG_008959.1:g.5473C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366577.10:c.34+16C>A MANE Select ENSP00000355536.5:n.34+16C>A
ENST00000535889.6:c.34+16C>A ENSP00000441845.1:n.34+16C>A
ENST00000650888.1:c.34+16C>A ENSP00000498393.1:n.34+16C>A
ENST00000651455.1:c.34+16C>A ENSP00000498963.1:n.34+16C>A
ENST00000652435.1:c.-100+16C>A ENSP00000505932.1:n.-100+16C>A
ENST00000674797.2:c.-100+16C>A ENSP00000502299.2:n.-100+16C>A
ENST00000679569.1:n.351+16C>A
ENST00000679842.1:c.34+16C>A ENSP00000506109.1:n.34+16C>A
ENST00000680454.1:n.478+16C>A
ENST00000681102.1:c.34+16C>A ENSP00000505600.1:n.34+16C>A
ENST00000681177.1:c.34+16C>A ENSP00000506327.1:n.34+16C>A
ENST00000366577.9:c.34+16C>A ENSP00000355536.5:n.34+16C>A
ENST00000463959.1:n.123+16C>A
ENST00000535889.5:c.34+16C>A ENSP00000441845.1:n.34+16C>A
NM_000254.2:c.34+16C>A NP_000245.2:n.34+16C>A
NM_001291939.1:c.34+16C>A NP_001278868.1:n.34+16C>A
NM_001291940.1:c.-1075+16C>A NP_001278869.1:n.-1075+16C>A
XM_005273141.3:c.34+16C>A XP_005273198.1:n.34+16C>A
XM_006711769.2:c.34+16C>A XP_006711832.1:n.34+16C>A
XM_011544193.1:c.34+16C>A XP_011542495.1:n.34+16C>A
XM_011544194.1:c.417+16C>A XP_011542496.1:n.417+16C>A
XM_005273141.5:c.34+16C>A XP_005273198.1:n.34+16C>A
XM_011544194.3:c.417+16C>A XP_011542496.1:n.417+16C>A
XM_017001329.2:c.417+16C>A XP_016856818.1:n.417+16C>A
XM_017001330.2:c.417+16C>A XP_016856819.1:n.417+16C>A
NM_001291940.2:c.-1075+16C>A NP_001278869.1:n.-1075+16C>A
NM_000254.3:c.34+16C>A MANE Select NP_000245.2:n.34+16C>A