Canonical Allele Identifier: CA393615343

Gene: FAH

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80153055A>C , CM000677.2:g.80153055A>C	GRCh38
NC_000015.9:g.80445397A>C , CM000677.1:g.80445397A>C	GRCh37
NC_000015.8:g.78232452A>C	NCBI36
NG_012833.1:g.5057A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.1A>C	ENSP00000507680.1:p.Met1Leu
ENST00000682012.1:n.76A>C
ENST00000684363.1:c.1A>C	ENSP00000507314.1:p.Met1Leu
ENST00000684569.1:n.46A>C
ENST00000561421.6:c.1A>C MANE Select	ENSP00000453347.2:p.Met1Leu
ENST00000261755.9:c.1A>C	ENSP00000261755.5:p.Met1Leu
ENST00000407106.5:c.1A>C	ENSP00000385080.1:p.Met1Leu
ENST00000537726.5:n.83A>C
ENST00000558022.5:c.1A>C	ENSP00000453152.1:p.Met1Leu
ENST00000558767.5:n.262A>C
ENST00000561369.1:n.81A>C
ENST00000561421.5:c.1A>C	ENSP00000453347.1:p.Met1Leu
NM_000137.2:c.1A>C	NP_000128.1:p.Met1Leu
XM_024449872.1:c.1A>C	XP_024305640.1:p.Met1Leu
NM_000137.4:c.1A>C MANE Select	NP_000128.1:p.Met1Leu
NM_001374377.1:c.1A>C	NP_001361306.1:p.Met1Leu
NM_001374380.1:c.1A>C	NP_001361309.1:p.Met1Leu