Canonical Allele Identifier: CA39749246

Gene: MTR

Linked Data

• dbSNP Id: rs994666608
• gnomAD v4: 1-236829254-A-G
• MyVariant Identifiers: chr1:g.236992554A>G (hg19) ; chr1:g.236829254A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236829254A>G , CM000663.2:g.236829254A>G	GRCh38
NC_000001.10:g.236992554A>G , CM000663.1:g.236992554A>G	GRCh37
NC_000001.9:g.235059177A>G	NCBI36
NG_008959.1:g.38974A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.1061A>G MANE Select	ENSP00000355536.5:p.His354Arg
ENST00000535889.6:c.1061A>G	ENSP00000441845.1:p.His354Arg
ENST00000650888.1:c.*103A>G	ENSP00000498393.1:n.*103A>G
ENST00000651455.1:c.1061A>G	ENSP00000498963.1:p.His354Arg
ENST00000674797.2:c.713A>G	ENSP00000502299.2:p.His238Arg
ENST00000679569.1:n.1375A>G
ENST00000679842.1:c.1061A>G	ENSP00000506109.1:p.His354Arg
ENST00000680454.1:n.1505A>G
ENST00000681102.1:c.1061A>G	ENSP00000505600.1:p.His354Arg
ENST00000681177.1:c.1061A>G	ENSP00000506327.1:p.His354Arg
ENST00000681937.1:n.1693A>G
ENST00000366577.9:c.1061A>G	ENSP00000355536.5:p.His354Arg
ENST00000463959.1:n.1080A>G
ENST00000535889.5:c.1061A>G	ENSP00000441845.1:p.His354Arg
NM_000254.2:c.1061A>G	NP_000245.2:p.His354Arg
NM_001291939.1:c.1061A>G	NP_001278868.1:p.His354Arg
NM_001291940.1:c.-48A>G	NP_001278869.1:n.-48A>G
XM_005273141.3:c.1058A>G	XP_005273198.1:p.His353Arg
XM_006711769.2:c.1061A>G	XP_006711832.1:p.His354Arg
XM_006711770.1:c.125A>G	XP_006711833.1:p.His42Arg
XM_011544193.1:c.1061A>G	XP_011542495.1:p.His354Arg
XM_011544194.1:c.1229A>G	XP_011542496.1:p.His410Arg
XM_005273141.5:c.1058A>G	XP_005273198.1:p.His353Arg
XM_006711770.3:c.125A>G	XP_006711833.1:p.His42Arg
XM_011544194.3:c.1229A>G	XP_011542496.1:p.His410Arg
XM_017001329.2:c.1229A>G	XP_016856818.1:p.His410Arg
XM_017001330.2:c.1229A>G	XP_016856819.1:p.His410Arg
NM_001291940.2:c.-48A>G	NP_001278869.1:n.-48A>G
NM_000254.3:c.1061A>G MANE Select	NP_000245.2:p.His354Arg