Canonical Allele Identifier: CA17974656
Community Standard Title: NM_005957.5(MTHFR):c.474A>T (p.Gly158=)
Gene: MTHFR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11801162T>A , CM000663.2:g.11801162T>A GRCh38
NC_000001.10:g.11861219T>A , CM000663.1:g.11861219T>A GRCh37
NC_000001.9:g.11783806T>A NCBI36
NG_008766.1:g.13T>A
NG_013351.1:g.9942A>T , LRG_726:g.9942A>T

Transcript Alleles

HGVS Amino-acid Change
NM_005957.5:c.474A>T MANE Select NP_005948.3:p.Gly158=
ENST00000376590.9:c.474A>T MANE Select ENSP00000365775.3:p.Gly158=
NM_001330358.1:c.597A>T NP_001317287.1:p.Gly199=
NM_001330358.2:c.597A>T NP_001317287.1:p.Gly199=
NM_005957.4:c.474A>T , LRG_726t1:c.474A>T NP_005948.3:p.Gly158=
ENST00000376486.3:c.474A>T ENSP00000365669.3:p.Gly158=
ENST00000376583.7:c.597A>T ENSP00000365767.3:p.Gly199=
ENST00000376585.5:c.597A>T ENSP00000365770.1:p.Gly199=
ENST00000376585.6:c.597A>T ENSP00000365770.1:p.Gly199=
ENST00000376590.7:c.474A>T ENSP00000365775.3:p.Gly158=
ENST00000376592.5:c.474A>T ENSP00000365777.1:p.Gly158=
ENST00000376592.6:c.474A>T ENSP00000365777.1:p.Gly158=
ENST00000423400.7:c.594A>T ENSP00000398908.3:p.Gly198=
ENST00000641407.1:c.474A>T ENSP00000493098.1:p.Gly158=
ENST00000641437.1:n.606A>T
ENST00000641446.1:c.474A>T ENSP00000493262.1:p.Gly158=
ENST00000641721.1:n.531A>T
ENST00000641747.1:c.237-840A>T ENSP00000493116.1:n.237-840A>T
ENST00000641759.1:n.609A>T
ENST00000641805.1:n.757A>T
ENST00000641909.1:n.884A>T
XM_005263458.2:c.597A>T XP_005263515.1:p.Gly199=
XM_005263460.3:c.474A>T XP_005263517.1:p.Gly158=
XM_005263460.5:c.474A>T XP_005263517.1:p.Gly158=
XM_005263461.3:c.474A>T XP_005263518.1:p.Gly158=
XM_005263462.3:c.474A>T XP_005263519.1:p.Gly158=
XM_005263462.4:c.474A>T XP_005263519.1:p.Gly158=
XM_005263463.2:c.228A>T XP_005263520.1:p.Gly76=
XM_005263463.4:c.228A>T XP_005263520.1:p.Gly76=
XM_011541495.1:c.594A>T XP_011539797.1:p.Gly198=
XM_011541495.3:c.594A>T XP_011539797.1:p.Gly198=
XM_011541496.1:c.597A>T XP_011539798.1:p.Gly199=
XM_011541496.3:c.597A>T XP_011539798.1:p.Gly199=
XM_017001328.2:c.597A>T XP_016856817.1:p.Gly199=
XM_024447198.1:c.228A>T XP_024302966.1:p.Gly76=
XR_002956640.1:n.1341A>T