Canonical Allele Identifier: CA393615587
Gene: FAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1685807
ClinVar RCV Id: RCV002249974
dbSNP Id: rs2041065908

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80153115G>T , CM000677.2:g.80153115G>T GRCh38
NC_000015.9:g.80445457G>T , CM000677.1:g.80445457G>T GRCh37
NC_000015.8:g.78232512G>T NCBI36
NG_012833.1:g.5117G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000558767.6:c.61G>T ENSP00000507680.1:p.Val21Phe
ENST00000682012.1:n.136G>T
ENST00000684363.1:c.61G>T ENSP00000507314.1:p.Val21Phe
ENST00000684569.1:n.106G>T
ENST00000561421.6:c.61G>T MANE Select ENSP00000453347.2:p.Val21Phe
ENST00000261755.9:c.61G>T ENSP00000261755.5:p.Val21Phe
ENST00000407106.5:c.61G>T ENSP00000385080.1:p.Val21Phe
ENST00000537726.5:n.143G>T
ENST00000558022.5:c.61G>T ENSP00000453152.1:p.Val21Phe
ENST00000558767.5:n.322G>T
ENST00000561369.1:n.141G>T
ENST00000561421.5:c.61G>T ENSP00000453347.1:p.Val21Phe
NM_000137.2:c.61G>T NP_000128.1:p.Val21Phe
XM_024449872.1:c.61G>T XP_024305640.1:p.Val21Phe
NM_000137.4:c.61G>T MANE Select NP_000128.1:p.Val21Phe
NM_001374377.1:c.61G>T NP_001361306.1:p.Val21Phe
NM_001374380.1:c.61G>T NP_001361309.1:p.Val21Phe