Canonical Allele Identifier: CA359158685
Gene: MTRR HGNC NCBI

Linked Data

gnomAD v4: 5-7891374-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.7891374C>A , CM000667.2:g.7891374C>A GRCh38
NC_000005.9:g.7891487C>A , CM000667.1:g.7891487C>A GRCh37
NC_000005.8:g.7944487C>A NCBI36
NG_008856.1:g.27271C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000440940.7:c.1330C>A MANE Select ENSP00000402510.2:p.His444Asn
ENST00000264668.6:c.1411C>A ENSP00000264668.2:p.His471Asn
ENST00000440940.6:c.1330C>A ENSP00000402510.2:p.His444Asn
ENST00000507202.1:n.6C>A
ENST00000507414.1:n.70C>A
ENST00000508101.5:n.570C>A
ENST00000510525.5:c.1266C>A
ENST00000511461.5:c.1243C>A
ENST00000512311.5:n.309C>A
ENST00000513439.5:c.*1037C>A ENSP00000426710.1:n.*1037C>A
NM_002454.2:c.1330C>A NP_002445.2:p.His444Asn
NM_024010.2:c.1411C>A NP_076915.2:p.His471Asn
XM_011514043.1:c.1411C>A XP_011512345.1:p.His471Asn
XM_011514044.1:c.1330C>A XP_011512346.1:p.His444Asn
XR_241702.1:n.1344C>A
XR_241703.1:n.1337C>A
XR_925614.1:n.1456C>A
XR_925615.1:n.1608C>A
NM_001364440.1:c.1330C>A NP_001351369.1:p.His444Asn
NM_001364441.1:c.1330C>A NP_001351370.1:p.His444Asn
NM_001364442.1:c.1330C>A NP_001351371.1:p.His444Asn
NM_024010.3:c.1330C>A NP_076915.3:p.His444Asn
NR_134480.1:n.1453C>A
NR_134481.1:n.1378C>A
NR_134482.1:n.1313C>A
NR_157168.1:n.1383C>A
NR_157169.1:n.1243C>A
NR_157170.1:n.1409C>A
NR_157171.1:n.1266C>A
NR_157172.1:n.1180C>A
NR_157173.1:n.1420C>A
NR_157174.1:n.1421C>A
NR_157175.1:n.1575C>A
NR_157176.1:n.1738C>A
NR_157177.1:n.1418C>A
NR_157178.1:n.1446C>A
XM_024446063.1:c.1375C>A XP_024301831.1:p.His459Asn
XM_024446064.1:c.1330C>A XP_024301832.1:p.His444Asn
XR_001742071.1:n.1608C>A
XR_001742072.1:n.1585C>A
XR_001742074.1:n.1344C>A
XR_001742075.1:n.1496C>A
XR_001742076.1:n.1573C>A
XR_001742077.1:n.1596C>A
NM_001364440.2:c.1330C>A NP_001351369.1:p.His444Asn
NM_001364441.2:c.1330C>A NP_001351370.1:p.His444Asn
NM_001364442.2:c.1330C>A NP_001351371.1:p.His444Asn
NM_002454.3:c.1330C>A MANE Select NP_002445.2:p.His444Asn
NM_024010.4:c.1330C>A NP_076915.3:p.His444Asn
NR_134480.2:n.1409C>A
NR_134481.2:n.1334C>A
NR_134482.2:n.1269C>A
NR_157168.2:n.1383C>A
NR_157169.2:n.1243C>A
NR_157170.2:n.1409C>A
NR_157171.2:n.1266C>A
NR_157172.2:n.1180C>A
NR_157173.2:n.1420C>A
NR_157174.2:n.1421C>A
NR_157175.2:n.1575C>A
NR_157176.2:n.1738C>A
NR_157177.2:n.1418C>A
NR_157178.2:n.1446C>A