Canonical Allele Identifier: CA393619936
Gene: FAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80168138A>C , CM000677.2:g.80168138A>C GRCh38
NC_000015.9:g.80460480A>C , CM000677.1:g.80460480A>C GRCh37
NC_000015.8:g.78247535A>C NCBI36
NG_012833.1:g.20140A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682012.1:n.617A>C
ENST00000684569.1:n.587A>C
ENST00000561421.6:c.542A>C MANE Select ENSP00000453347.2:p.Lys181Thr
ENST00000646551.1:n.2169A>C
ENST00000261755.9:c.542A>C ENSP00000261755.5:p.Lys181Thr
ENST00000407106.5:c.542A>C ENSP00000385080.1:p.Lys181Thr
ENST00000539156.5:c.332A>C ENSP00000454271.1:p.Lys111Thr
ENST00000558514.1:n.88A>C
ENST00000558627.1:n.470A>C
ENST00000561421.5:c.542A>C ENSP00000453347.1:p.Lys181Thr
NM_000137.2:c.542A>C NP_000128.1:p.Lys181Thr
XM_024449872.1:c.542A>C XP_024305640.1:p.Lys181Thr
NM_000137.4:c.542A>C MANE Select NP_000128.1:p.Lys181Thr
NM_001374377.1:c.542A>C NP_001361306.1:p.Lys181Thr
NM_001374380.1:c.542A>C NP_001361309.1:p.Lys181Thr