Canonical Allele Identifier: CA345391398
Gene: MTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236829202G>T , CM000663.2:g.236829202G>T GRCh38
NC_000001.10:g.236992502G>T , CM000663.1:g.236992502G>T GRCh37
NC_000001.9:g.235059125G>T NCBI36
NG_008959.1:g.38922G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366577.10:c.1009G>T MANE Select ENSP00000355536.5:p.Ala337Ser
ENST00000535889.6:c.1009G>T ENSP00000441845.1:p.Ala337Ser
ENST00000650888.1:c.*51G>T ENSP00000498393.1:n.*51G>T
ENST00000651455.1:c.1009G>T ENSP00000498963.1:p.Ala337Ser
ENST00000674797.2:c.661G>T ENSP00000502299.2:p.Ala221Ser
ENST00000679569.1:n.1323G>T
ENST00000679842.1:c.1009G>T ENSP00000506109.1:p.Ala337Ser
ENST00000680454.1:n.1453G>T
ENST00000681102.1:c.1009G>T ENSP00000505600.1:p.Ala337Ser
ENST00000681177.1:c.1009G>T ENSP00000506327.1:p.Ala337Ser
ENST00000681937.1:n.1641G>T
ENST00000366577.9:c.1009G>T ENSP00000355536.5:p.Ala337Ser
ENST00000463959.1:n.1028G>T
ENST00000535889.5:c.1009G>T ENSP00000441845.1:p.Ala337Ser
NM_000254.2:c.1009G>T NP_000245.2:p.Ala337Ser
NM_001291939.1:c.1009G>T NP_001278868.1:p.Ala337Ser
NM_001291940.1:c.-100G>T NP_001278869.1:n.-100G>T
XM_005273141.3:c.1006G>T XP_005273198.1:p.Ala336Ser
XM_006711769.2:c.1009G>T XP_006711832.1:p.Ala337Ser
XM_006711770.1:c.73G>T XP_006711833.1:p.Ala25Ser
XM_011544193.1:c.1009G>T XP_011542495.1:p.Ala337Ser
XM_011544194.1:c.1177G>T XP_011542496.1:p.Ala393Ser
XM_005273141.5:c.1006G>T XP_005273198.1:p.Ala336Ser
XM_006711770.3:c.73G>T XP_006711833.1:p.Ala25Ser
XM_011544194.3:c.1177G>T XP_011542496.1:p.Ala393Ser
XM_017001329.2:c.1177G>T XP_016856818.1:p.Ala393Ser
XM_017001330.2:c.1177G>T XP_016856819.1:p.Ala393Ser
NM_001291940.2:c.-100G>T NP_001278869.1:n.-100G>T
NM_000254.3:c.1009G>T MANE Select NP_000245.2:p.Ala337Ser