Canonical Allele Identifier: CA13635660
Gene: MTRFR HGNC NCBI
dbSNP:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123246876A>G , CM000674.2:g.123246876A>G GRCh38
NC_000012.11:g.123731423A>G , CM000674.1:g.123731423A>G GRCh37
NC_000012.10:g.122297376A>G NCBI36
NG_027517.1:g.18580A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000253233.6:c.-28-6771A>G MANE Select ENSP00000253233.1:n.-28-6771A>G
ENST00000366329.7:c.-28-6771A>G ENSP00000390647.1:n.-28-6771A>G
ENST00000425637.3:c.-28-6771A>G ENSP00000506680.1:n.-28-6771A>G
ENST00000536130.2:c.-28-6771A>G ENSP00000443072.2:n.-28-6771A>G
ENST00000538888.6:c.-28-6771A>G ENSP00000505059.1:n.-28-6771A>G
ENST00000546132.2:c.-28-6771A>G ENSP00000441796.2:n.-28-6771A>G
ENST00000680325.1:c.-28-6771A>G ENSP00000505277.1:n.-28-6771A>G
ENST00000253233.5:c.-28-6771A>G ENSP00000253233.1:n.-28-6771A>G
ENST00000366329.6:c.-28-6771A>G ENSP00000390647.1:n.-28-6771A>G
ENST00000425637.2:n.96-6771A>G
ENST00000536130.1:c.-28-6771A>G ENSP00000443072.1:n.-28-6771A>G
ENST00000538888.5:n.96-6771A>G
ENST00000546132.1:c.-28-6771A>G ENSP00000441796.1:n.-28-6771A>G
NM_001143905.2:c.-28-6771A>G NP_001137377.1:n.-28-6771A>G
NM_001194995.1:c.-28-6771A>G NP_001181924.1:n.-28-6771A>G
NM_152269.4:c.-28-6771A>G NP_689482.1:n.-28-6771A>G
XM_005253630.3:c.-28-6771A>G XP_005253687.1:n.-28-6771A>G
XM_011538980.1:c.-29+4165A>G XP_011537282.1:n.-29+4165A>G
XM_011538982.1:c.-29+3842A>G XP_011537284.1:n.-29+3842A>G
XM_005253630.4:c.-28-6771A>G XP_005253687.1:n.-28-6771A>G
XM_011538980.3:c.-29+4165A>G XP_011537282.1:n.-29+4165A>G
XM_024449273.1:c.-29+3842A>G XP_024305041.1:n.-29+3842A>G
NM_152269.5:c.-28-6771A>G MANE Select NP_689482.1:n.-28-6771A>G