Canonical Allele Identifier: CA2190310642
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80180166G= , CM000677.2:g.80180166G= GRCh38
NC_000015.9:g.80472508G= , CM000677.1:g.80472508G= GRCh37
NC_000015.8:g.78259563G= NCBI36
NG_012833.1:g.32168G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682012.1:n.1092G=
ENST00000561421.6:c.1003G= MANE Select ENSP00000453347.2:p.Val335=
ENST00000646551.1:n.2617G=
ENST00000261755.9:c.1003G= ENSP00000261755.5:p.Val335=
ENST00000407106.5:c.1003G= ENSP00000385080.1:p.Val335=
ENST00000539156.5:c.793G= ENSP00000454271.1:p.Val265=
ENST00000559217.1:n.220G=
ENST00000561353.2:c.101G=
ENST00000561421.5:c.1003G= ENSP00000453347.1:p.Val335=
NM_000137.2:c.1003G= NP_000128.1:p.Val335=
XM_024449872.1:c.1003G= XP_024305640.1:p.Val335=
NM_000137.4:c.1003G= MANE Select NP_000128.1:p.Val335=
NM_001374377.1:c.1003G= NP_001361306.1:p.Val335=
NM_001374380.1:c.1003G= NP_001361309.1:p.Val335=