Canonical Allele Identifier: CA359159230

Gene: MTRR

Linked Data

• dbSNP Id: rs1738400764
• gnomAD v4: 5-7895762-C-A
• MyVariant Identifiers: chr5:g.7895875C>A (hg19) ; chr5:g.7895762C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7895762C>A , CM000667.2:g.7895762C>A	GRCh38
NC_000005.9:g.7895875C>A , CM000667.1:g.7895875C>A	GRCh37
NC_000005.8:g.7948875C>A	NCBI36
NG_008856.1:g.31659C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000440940.7:c.1586C>A MANE Select	ENSP00000402510.2:p.Ser529Tyr
ENST00000264668.6:c.1667C>A	ENSP00000264668.2:p.Ser556Tyr
ENST00000440940.6:c.1586C>A	ENSP00000402510.2:p.Ser529Tyr
ENST00000510525.5:c.1522C>A
ENST00000511461.5:c.1499C>A
ENST00000513439.5:c.*1293C>A	ENSP00000426710.1:n.*1293C>A
NM_002454.2:c.1586C>A	NP_002445.2:p.Ser529Tyr
NM_024010.2:c.1667C>A	NP_076915.2:p.Ser556Tyr
XM_011514043.1:c.1667C>A	XP_011512345.1:p.Ser556Tyr
XM_011514044.1:c.1586C>A	XP_011512346.1:p.Ser529Tyr
XR_241702.1:n.1600C>A
XR_241703.1:n.1593C>A
XR_925614.1:n.1712C>A
NM_001364440.1:c.1586C>A	NP_001351369.1:p.Ser529Tyr
NM_001364441.1:c.1586C>A	NP_001351370.1:p.Ser529Tyr
NM_001364442.1:c.1586C>A	NP_001351371.1:p.Ser529Tyr
NM_024010.3:c.1586C>A	NP_076915.3:p.Ser529Tyr
NR_134480.1:n.1709C>A
NR_134481.1:n.1634C>A
NR_134482.1:n.1569C>A
NR_157168.1:n.1639C>A
NR_157169.1:n.1499C>A
NR_157170.1:n.1665C>A
NR_157171.1:n.1522C>A
NR_157172.1:n.1436C>A
NR_157173.1:n.1676C>A
NR_157174.1:n.1677C>A
NR_157175.1:n.1831C>A
NR_157176.1:n.1994C>A
NR_157177.1:n.1674C>A
NR_157178.1:n.1702C>A
XM_024446063.1:c.1631C>A	XP_024301831.1:p.Ser544Tyr
XM_024446064.1:c.1586C>A	XP_024301832.1:p.Ser529Tyr
XR_001742071.1:n.1864C>A
XR_001742072.1:n.1841C>A
XR_001742074.1:n.1600C>A
XR_001742075.1:n.1752C>A
XR_001742076.1:n.1829C>A
XR_001742077.1:n.1852C>A
NM_001364440.2:c.1586C>A	NP_001351369.1:p.Ser529Tyr
NM_001364441.2:c.1586C>A	NP_001351370.1:p.Ser529Tyr
NM_001364442.2:c.1586C>A	NP_001351371.1:p.Ser529Tyr
NM_002454.3:c.1586C>A MANE Select	NP_002445.2:p.Ser529Tyr
NM_024010.4:c.1586C>A	NP_076915.3:p.Ser529Tyr
NR_134480.2:n.1665C>A
NR_134481.2:n.1590C>A
NR_134482.2:n.1525C>A
NR_157168.2:n.1639C>A
NR_157169.2:n.1499C>A
NR_157170.2:n.1665C>A
NR_157171.2:n.1522C>A
NR_157172.2:n.1436C>A
NR_157173.2:n.1676C>A
NR_157174.2:n.1677C>A
NR_157175.2:n.1831C>A
NR_157176.2:n.1994C>A
NR_157177.2:n.1674C>A
NR_157178.2:n.1702C>A