Canonical Allele Identifier: CA2190340885
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80177484C= , CM000677.2:g.80177484C= GRCh38
NC_000015.9:g.80469826C= , CM000677.1:g.80469826C= GRCh37
NC_000015.8:g.78256881C= NCBI36
NG_012833.1:g.29486C=

Transcript Alleles

HGVS Amino-acid change
ENST00000682012.1:n.1003-53C=
ENST00000561421.6:c.914-53C= MANE Select ENSP00000453347.2:n.914-53C=
ENST00000646551.1:n.2528-53C=
ENST00000261755.9:c.914-53C= ENSP00000261755.5:n.914-53C=
ENST00000407106.5:c.914-53C= ENSP00000385080.1:n.914-53C=
ENST00000539156.5:c.704-53C= ENSP00000454271.1:n.704-53C=
ENST00000559217.1:n.78C=
ENST00000561353.2:c.12-53C=
ENST00000561421.5:c.914-53C= ENSP00000453347.1:n.914-53C=
NM_000137.2:c.914-53C= NP_000128.1:n.914-53C=
XM_024449872.1:c.914-53C= XP_024305640.1:n.914-53C=
NM_000137.4:c.914-53C= MANE Select NP_000128.1:n.914-53C=
NM_001374377.1:c.914-53C= NP_001361306.1:n.914-53C=
NM_001374380.1:c.914-53C= NP_001361309.1:n.914-53C=