Canonical Allele Identifier: CA423816844

Gene: MTR

Linked Data

• dbSNP Id: rs1345601656
• gnomAD v2: 1-236992555-T-C
• gnomAD v4: 1-236829255-T-C
• MyVariant Identifiers: chr1:g.236992555T>C (hg19) ; chr1:g.236829255T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236829255T>C , CM000663.2:g.236829255T>C	GRCh38
NC_000001.10:g.236992555T>C , CM000663.1:g.236992555T>C	GRCh37
NC_000001.9:g.235059178T>C	NCBI36
NG_008959.1:g.38975T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.1062T>C MANE Select	ENSP00000355536.5:p.His354=
ENST00000535889.6:c.1062T>C	ENSP00000441845.1:p.His354=
ENST00000650888.1:c.*104T>C	ENSP00000498393.1:n.*104T>C
ENST00000651455.1:c.1062T>C	ENSP00000498963.1:p.His354=
ENST00000674797.2:c.714T>C	ENSP00000502299.2:p.His238=
ENST00000679569.1:n.1376T>C
ENST00000679842.1:c.1062T>C	ENSP00000506109.1:p.His354=
ENST00000680454.1:n.1506T>C
ENST00000681102.1:c.1062T>C	ENSP00000505600.1:p.His354=
ENST00000681177.1:c.1062T>C	ENSP00000506327.1:p.His354=
ENST00000681937.1:n.1694T>C
ENST00000366577.9:c.1062T>C	ENSP00000355536.5:p.His354=
ENST00000463959.1:n.1081T>C
ENST00000535889.5:c.1062T>C	ENSP00000441845.1:p.His354=
NM_000254.2:c.1062T>C	NP_000245.2:p.His354=
NM_001291939.1:c.1062T>C	NP_001278868.1:p.His354=
NM_001291940.1:c.-47T>C	NP_001278869.1:n.-47T>C
XM_005273141.3:c.1059T>C	XP_005273198.1:p.His353=
XM_006711769.2:c.1062T>C	XP_006711832.1:p.His354=
XM_006711770.1:c.126T>C	XP_006711833.1:p.His42=
XM_011544193.1:c.1062T>C	XP_011542495.1:p.His354=
XM_011544194.1:c.1230T>C	XP_011542496.1:p.His410=
XM_005273141.5:c.1059T>C	XP_005273198.1:p.His353=
XM_006711770.3:c.126T>C	XP_006711833.1:p.His42=
XM_011544194.3:c.1230T>C	XP_011542496.1:p.His410=
XM_017001329.2:c.1230T>C	XP_016856818.1:p.His410=
XM_017001330.2:c.1230T>C	XP_016856819.1:p.His410=
NM_001291940.2:c.-47T>C	NP_001278869.1:n.-47T>C
NM_000254.3:c.1062T>C MANE Select	NP_000245.2:p.His354=