Canonical Allele Identifier: CA402536854
Community Standard Title: NM_000140.5(FECH):c.287G>T (p.Arg96Leu)
Gene: FECH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.57573273C>A , CM000680.2:g.57573273C>A GRCh38
NC_000018.9:g.55240505C>A , CM000680.1:g.55240505C>A GRCh37
NC_000018.8:g.53391503C>A NCBI36
NG_008175.1:g.18465G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000140.5:c.287G>T MANE Select NP_000131.2:p.Arg96Leu
ENST00000262093.11:c.287G>T MANE Select ENSP00000262093.6:p.Arg96Leu
NM_000140.3:c.287G>T NP_000131.2:p.Arg96Leu
NM_000140.4:c.287G>T NP_000131.2:p.Arg96Leu
NM_001012515.2:c.305G>T NP_001012533.1:p.Arg102Leu
NM_001012515.3:c.305G>T NP_001012533.1:p.Arg102Leu
NM_001012515.4:c.305G>T NP_001012533.1:p.Arg102Leu
NM_001371094.1:c.287G>T NP_001358023.1:p.Arg96Leu
NM_001371095.1:c.71G>T NP_001358024.1:p.Arg24Leu
NM_001374778.1:c.287G>T NP_001361707.1:p.Arg96Leu
ENST00000262093.9:c.287G>T ENSP00000262093.5:p.Arg96Leu
ENST00000382873.7:c.305G>T ENSP00000372326.3:p.Arg102Leu
ENST00000382873.8:c.71G>T ENSP00000372326.4:p.Arg24Leu
ENST00000585494.5:c.287G>T ENSP00000465243.1:p.Arg96Leu
ENST00000585699.1:n.239G>T
ENST00000585747.1:c.287G>T ENSP00000465717.1:p.Arg96Leu
ENST00000585878.1:n.339G>T
ENST00000591215.5:c.71G>T ENSP00000467461.1:p.Arg24Leu
ENST00000592111.1:n.288G>T
ENST00000592699.5:c.287G>T ENSP00000466263.1:p.Arg96Leu
ENST00000592699.6:c.287G>T ENSP00000466263.1:p.Arg96Leu
ENST00000651787.1:n.393G>T
ENST00000652755.1:c.305G>T ENSP00000498358.1:p.Arg102Leu
ENST00000682485.1:n.399G>T
XM_011525881.1:c.305G>T XP_011524183.1:p.Arg102Leu
XM_011525882.1:c.71G>T XP_011524184.1:p.Arg24Leu
XM_011525882.2:c.71G>T XP_011524184.1:p.Arg24Leu
XM_017025614.2:c.287G>T XP_016881103.1:p.Arg96Leu