Canonical Allele Identifier: CA113814308

Gene: MTRR

Linked Data

• dbSNP Id: rs926136845
• gnomAD v3: 5-7895765-T-C
• gnomAD v4: 5-7895765-T-C
• MyVariant Identifiers: chr5:g.7895878T>C (hg19) ; chr5:g.7895765T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7895765T>C , CM000667.2:g.7895765T>C	GRCh38
NC_000005.9:g.7895878T>C , CM000667.1:g.7895878T>C	GRCh37
NC_000005.8:g.7948878T>C	NCBI36
NG_008856.1:g.31662T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000440940.7:c.1589T>C MANE Select	ENSP00000402510.2:p.Phe530Ser
ENST00000264668.6:c.1670T>C	ENSP00000264668.2:p.Phe557Ser
ENST00000440940.6:c.1589T>C	ENSP00000402510.2:p.Phe530Ser
ENST00000510525.5:c.1525T>C
ENST00000511461.5:c.1502T>C
ENST00000513439.5:c.*1296T>C	ENSP00000426710.1:n.*1296T>C
NM_002454.2:c.1589T>C	NP_002445.2:p.Phe530Ser
NM_024010.2:c.1670T>C	NP_076915.2:p.Phe557Ser
XM_011514043.1:c.1670T>C	XP_011512345.1:p.Phe557Ser
XM_011514044.1:c.1589T>C	XP_011512346.1:p.Phe530Ser
XR_241702.1:n.1603T>C
XR_241703.1:n.1596T>C
XR_925614.1:n.1715T>C
NM_001364440.1:c.1589T>C	NP_001351369.1:p.Phe530Ser
NM_001364441.1:c.1589T>C	NP_001351370.1:p.Phe530Ser
NM_001364442.1:c.1589T>C	NP_001351371.1:p.Phe530Ser
NM_024010.3:c.1589T>C	NP_076915.3:p.Phe530Ser
NR_134480.1:n.1712T>C
NR_134481.1:n.1637T>C
NR_134482.1:n.1572T>C
NR_157168.1:n.1642T>C
NR_157169.1:n.1502T>C
NR_157170.1:n.1668T>C
NR_157171.1:n.1525T>C
NR_157172.1:n.1439T>C
NR_157173.1:n.1679T>C
NR_157174.1:n.1680T>C
NR_157175.1:n.1834T>C
NR_157176.1:n.1997T>C
NR_157177.1:n.1677T>C
NR_157178.1:n.1705T>C
XM_024446063.1:c.1634T>C	XP_024301831.1:p.Phe545Ser
XM_024446064.1:c.1589T>C	XP_024301832.1:p.Phe530Ser
XR_001742071.1:n.1867T>C
XR_001742072.1:n.1844T>C
XR_001742074.1:n.1603T>C
XR_001742075.1:n.1755T>C
XR_001742076.1:n.1832T>C
XR_001742077.1:n.1855T>C
NM_001364440.2:c.1589T>C	NP_001351369.1:p.Phe530Ser
NM_001364441.2:c.1589T>C	NP_001351370.1:p.Phe530Ser
NM_001364442.2:c.1589T>C	NP_001351371.1:p.Phe530Ser
NM_002454.3:c.1589T>C MANE Select	NP_002445.2:p.Phe530Ser
NM_024010.4:c.1589T>C	NP_076915.3:p.Phe530Ser
NR_134480.2:n.1668T>C
NR_134481.2:n.1593T>C
NR_134482.2:n.1528T>C
NR_157168.2:n.1642T>C
NR_157169.2:n.1502T>C
NR_157170.2:n.1668T>C
NR_157171.2:n.1525T>C
NR_157172.2:n.1439T>C
NR_157173.2:n.1679T>C
NR_157174.2:n.1680T>C
NR_157175.2:n.1834T>C
NR_157176.2:n.1997T>C
NR_157177.2:n.1677T>C
NR_157178.2:n.1705T>C