Canonical Allele Identifier: CA3195994

Gene: MTRR

Linked Data

• ClinVar Variation Id: 1141319
• ClinVar RCV Id: RCV001478753
• dbSNP Id: rs778082216
• ExAC: 5:7895882 C / T
• gnomAD v2: 5-7895882-C-T
• MyVariant Identifiers: chr5:g.7895882C>T (hg19) ; chr5:g.7895769C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7895769C>T , CM000667.2:g.7895769C>T	GRCh38
NC_000005.9:g.7895882C>T , CM000667.1:g.7895882C>T	GRCh37
NC_000005.8:g.7948882C>T	NCBI36
NG_008856.1:g.31666C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000440940.7:c.1593C>T MANE Select	ENSP00000402510.2:p.His531=
ENST00000264668.6:c.1674C>T	ENSP00000264668.2:p.His558=
ENST00000440940.6:c.1593C>T	ENSP00000402510.2:p.His531=
ENST00000510525.5:c.1529C>T
ENST00000511461.5:c.1506C>T
ENST00000513439.5:c.*1300C>T	ENSP00000426710.1:n.*1300C>T
NM_002454.2:c.1593C>T	NP_002445.2:p.His531=
NM_024010.2:c.1674C>T	NP_076915.2:p.His558=
XM_011514043.1:c.1674C>T	XP_011512345.1:p.His558=
XM_011514044.1:c.1593C>T	XP_011512346.1:p.His531=
XR_241702.1:n.1607C>T
XR_241703.1:n.1600C>T
XR_925614.1:n.1719C>T
NM_001364440.1:c.1593C>T	NP_001351369.1:p.His531=
NM_001364441.1:c.1593C>T	NP_001351370.1:p.His531=
NM_001364442.1:c.1593C>T	NP_001351371.1:p.His531=
NM_024010.3:c.1593C>T	NP_076915.3:p.His531=
NR_134480.1:n.1716C>T
NR_134481.1:n.1641C>T
NR_134482.1:n.1576C>T
NR_157168.1:n.1646C>T
NR_157169.1:n.1506C>T
NR_157170.1:n.1672C>T
NR_157171.1:n.1529C>T
NR_157172.1:n.1443C>T
NR_157173.1:n.1683C>T
NR_157174.1:n.1684C>T
NR_157175.1:n.1838C>T
NR_157176.1:n.2001C>T
NR_157177.1:n.1681C>T
NR_157178.1:n.1709C>T
XM_024446063.1:c.1638C>T	XP_024301831.1:p.His546=
XM_024446064.1:c.1593C>T	XP_024301832.1:p.His531=
XR_001742071.1:n.1871C>T
XR_001742072.1:n.1848C>T
XR_001742074.1:n.1607C>T
XR_001742075.1:n.1759C>T
XR_001742076.1:n.1836C>T
XR_001742077.1:n.1859C>T
NM_001364440.2:c.1593C>T	NP_001351369.1:p.His531=
NM_001364441.2:c.1593C>T	NP_001351370.1:p.His531=
NM_001364442.2:c.1593C>T	NP_001351371.1:p.His531=
NM_002454.3:c.1593C>T MANE Select	NP_002445.2:p.His531=
NM_024010.4:c.1593C>T	NP_076915.3:p.His531=
NR_134480.2:n.1672C>T
NR_134481.2:n.1597C>T
NR_134482.2:n.1532C>T
NR_157168.2:n.1646C>T
NR_157169.2:n.1506C>T
NR_157170.2:n.1672C>T
NR_157171.2:n.1529C>T
NR_157172.2:n.1443C>T
NR_157173.2:n.1683C>T
NR_157174.2:n.1684C>T
NR_157175.2:n.1838C>T
NR_157176.2:n.2001C>T
NR_157177.2:n.1681C>T
NR_157178.2:n.1709C>T