Canonical Allele Identifier: CA12396226
Gene: MTHFD1L HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs17349743

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.150892075T>C , CM000668.2:g.150892075T>C GRCh38
NC_000006.11:g.151213211T>C , CM000668.1:g.151213211T>C GRCh37
NC_000006.10:g.151254904T>C NCBI36
NG_029185.1:g.31397T>C
NG_029185.2:g.31397T>C

Transcript Alleles

HGVS Amino-acid change
NM_001242767.1:c.783+4094T>C VV NP_001229696.1:p.=
NM_001242768.1:c.585+4094T>C VV NP_001229697.1:p.=
NM_001242769.1:c.780+4094T>C VV NP_001229698.1:p.=
NM_015440.4:c.780+4094T>C VV NP_056255.2:p.=
XM_005266907.3:c.780+4094T>C XP_005266964.1:p.=
XM_005266910.3:c.783+4094T>C XP_005266967.1:p.=
XM_005266911.3:c.783+4094T>C XP_005266968.1:p.=
XM_011535729.1:c.783+4094T>C XP_011534031.1:p.=
XM_011535730.1:c.585+4094T>C XP_011534032.1:p.=
XM_011535731.1:c.582+4094T>C XP_011534033.1:p.=
XM_011535732.1:c.453+4094T>C XP_011534034.1:p.=
XM_011535733.1:c.453+4094T>C XP_011534035.1:p.=
XM_011535734.1:c.450+4094T>C XP_011534036.1:p.=
XM_011535735.1:c.783+4094T>C XP_011534037.1:p.=
XM_011535736.1:c.783+4094T>C XP_011534038.1:p.=
XM_011535737.1:c.783+4094T>C XP_011534039.1:p.=
XM_011535738.1:c.783+4094T>C XP_011534040.1:p.=
NM_001350486.1:c.582+4094T>C VV NP_001337415.1:p.=
NM_001350487.1:c.450+4094T>C VV NP_001337416.1:p.=
NM_001350488.1:c.783+4094T>C VV NP_001337417.1:p.=
NM_001350489.1:c.643+6341T>C VV NP_001337418.1:p.=
NM_001350491.1:c.453+4094T>C VV NP_001337420.1:p.=
NM_001350492.1:c.453+4094T>C VV NP_001337421.1:p.=
NM_001350493.1:c.453+4094T>C VV NP_001337422.1:p.=
NR_146719.1:n.924+4094T>C
NR_146720.1:n.1689+4094T>C
XM_005266907.5:c.780+4094T>C
XM_005266911.5:c.783+4094T>C
XM_011535729.3:c.783+4094T>C
XM_011535730.2:c.585+4094T>C
XM_011535731.2:c.582+4094T>C
XM_011535732.2:c.453+4094T>C
XM_011535733.2:c.453+4094T>C
XM_011535734.2:c.450+4094T>C
XM_011535737.3:c.783+4094T>C
XM_011535738.3:c.783+4094T>C
XM_017010702.2:c.783+4094T>C XP_016866191.1:p.=
XM_017010703.2:c.783+4094T>C XP_016866192.1:p.=
XM_017010705.1:c.450+4094T>C XP_016866194.1:p.=
XM_024446395.1:c.675+4094T>C XP_024302163.1:p.=
XM_024446396.1:c.783+4094T>C XP_024302164.1:p.=
XR_001743322.2:n.922+4094T>C
XR_002956274.1:n.922+4094T>C
ENST00000367307.8:c.780+4094T>C ENSP00000356276.4:p.=
ENST00000367308.8:n.662+4094T>C
ENST00000367321.7:c.780+4094T>C ENSP00000356290.3:p.=
ENST00000441122.5:c.313+6341T>C ENSP00000407070.2:p.=
ENST00000611279.4:c.783+4094T>C ENSP00000478253.1:p.=
ENST00000618312.4:c.585+4094T>C ENSP00000479539.1:p.=