Canonical Allele Identifier: CA10588405
Gene: MTRR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 265421
ClinVar RCV Id: RCV000254795
dbSNP Id: rs147277149

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.7895749C>T , CM000667.2:g.7895749C>T GRCh38
NC_000005.8:g.7948862C>T NCBI36
NC_000005.9:g.7895862C>T , CM000667.1:g.7895862C>T GRCh37
NG_008856.1:g.31646C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264668.6:c.1654C>T ENSP00000264668.2:p.Arg552Ter
ENST00000440940.6:c.1573C>T ENSP00000402510.2:p.Arg525Ter
ENST00000510525.5:n.1509C>T
ENST00000511461.5:n.1486C>T
ENST00000513439.5:c.*1280C>T ENSP00000426710.1:p.=
NM_002454.2:c.1573C>T NP_002445.2:p.Arg525Ter
NM_024010.2:c.1654C>T NP_076915.2:p.Arg552Ter
XM_011514043.1:c.1654C>T XP_011512345.1:p.Arg552Ter
XM_011514044.1:c.1573C>T XP_011512346.1:p.Arg525Ter
XR_241702.1:n.1587C>T
XR_241703.1:n.1580C>T
XR_925614.1:n.1699C>T