Canonical Allele Identifier: CA2306052629
Community Standard Title: NM_000140.5(FECH):c.553G= (p.Ala185=)
Gene: FECH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.57566492C= , CM000680.2:g.57566492C= GRCh38
NC_000018.9:g.55233724C= , CM000680.1:g.55233724C= GRCh37
NC_000018.8:g.53384722C= NCBI36
NG_008175.1:g.25246G=

Transcript Alleles

HGVS Amino-acid Change
NM_000140.5:c.553G= MANE Select NP_000131.2:p.Ala185=
ENST00000262093.11:c.553G= MANE Select ENSP00000262093.6:p.Ala185=
NM_000140.3:c.553G= NP_000131.2:p.Ala185=
NM_000140.4:c.553G= NP_000131.2:p.Ala185=
NM_001012515.2:c.571G= NP_001012533.1:p.Ala191=
NM_001012515.3:c.571G= NP_001012533.1:p.Ala191=
NM_001012515.4:c.571G= NP_001012533.1:p.Ala191=
NM_001371094.1:c.553G= NP_001358023.1:p.Ala185=
NM_001371095.1:c.337G= NP_001358024.1:p.Ala113=
NM_001374778.1:c.553G= NP_001361707.1:p.Ala185=
ENST00000262093.9:c.553G= ENSP00000262093.5:p.Ala185=
ENST00000382873.7:c.571G= ENSP00000372326.3:p.Ala191=
ENST00000382873.8:c.337G= ENSP00000372326.4:p.Ala113=
ENST00000585494.5:c.*280G= ENSP00000465243.1:n.*280G=
ENST00000592699.5:c.553G= ENSP00000466263.1:p.Ala185=
ENST00000592699.6:c.553G= ENSP00000466263.1:p.Ala185=
ENST00000651787.1:n.659G=
ENST00000652755.1:c.571G= ENSP00000498358.1:p.Ala191=
ENST00000682485.1:n.728G=
XM_011525881.1:c.571G= XP_011524183.1:p.Ala191=
XM_011525882.1:c.337G= XP_011524184.1:p.Ala113=
XM_011525882.2:c.337G= XP_011524184.1:p.Ala113=
XM_017025614.2:c.553G= XP_016881103.1:p.Ala185=