Canonical Allele Identifier: CA7691023
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80158085T>C , CM000677.2:g.80158085T>C GRCh38
NC_000015.9:g.80450427T>C , CM000677.1:g.80450427T>C GRCh37
NC_000015.8:g.78237482T>C NCBI36
NG_012833.1:g.10087T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000558767.6:c.107T>C ENSP00000507680.1:p.Ile36Thr
ENST00000682012.1:n.182T>C
ENST00000684363.1:c.107T>C ENSP00000507314.1:p.Ile36Thr
ENST00000684569.1:n.152T>C
ENST00000561421.6:c.107T>C MANE Select ENSP00000453347.2:p.Ile36Thr
ENST00000646551.1:n.1594T>C
ENST00000261755.9:c.107T>C ENSP00000261755.5:p.Ile36Thr
ENST00000407106.5:c.107T>C ENSP00000385080.1:p.Ile36Thr
ENST00000537726.5:n.189T>C
ENST00000539156.5:c.-104T>C ENSP00000454271.1:n.-104T>C
ENST00000558022.5:c.107T>C ENSP00000453152.1:p.Ile36Thr
ENST00000558767.5:n.368T>C
ENST00000561369.1:n.187T>C
ENST00000561421.5:c.107T>C ENSP00000453347.1:p.Ile36Thr
NM_000137.2:c.107T>C NP_000128.1:p.Ile36Thr
XM_024449872.1:c.107T>C XP_024305640.1:p.Ile36Thr
NM_000137.4:c.107T>C MANE Select NP_000128.1:p.Ile36Thr
NM_001374377.1:c.107T>C NP_001361306.1:p.Ile36Thr
NM_001374380.1:c.107T>C NP_001361309.1:p.Ile36Thr