Canonical Allele Identifier: CA393619434

Gene: FAH

Linked Data

• gnomAD v4: 15-80162305-A-T
• MyVariant Identifiers: chr15:g.80454647A>T (hg19) ; chr15:g.80162305A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80162305A>T , CM000677.2:g.80162305A>T	GRCh38
NC_000015.9:g.80454647A>T , CM000677.1:g.80454647A>T	GRCh37
NC_000015.8:g.78241702A>T	NCBI36
NG_012833.1:g.14307A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.424A>T	ENSP00000507680.1:p.Arg142Trp
ENST00000682012.1:n.499A>T
ENST00000683593.1:n.2087A>T
ENST00000684363.1:c.365-87A>T	ENSP00000507314.1:n.365-87A>T
ENST00000684569.1:n.469A>T
ENST00000561421.6:c.424A>T MANE Select	ENSP00000453347.2:p.Arg142Trp
ENST00000646551.1:n.1911A>T
ENST00000261755.9:c.424A>T	ENSP00000261755.5:p.Arg142Trp
ENST00000407106.5:c.424A>T	ENSP00000385080.1:p.Arg142Trp
ENST00000537726.5:n.570A>T
ENST00000539156.5:c.214A>T	ENSP00000454271.1:p.Arg72Trp
ENST00000558022.5:c.424A>T	ENSP00000453152.1:p.Arg142Trp
ENST00000558627.1:n.352A>T
ENST00000558767.5:n.685A>T
ENST00000561369.1:n.568A>T
ENST00000561421.5:c.424A>T	ENSP00000453347.1:p.Arg142Trp
NM_000137.2:c.424A>T	NP_000128.1:p.Arg142Trp
XM_024449872.1:c.424A>T	XP_024305640.1:p.Arg142Trp
NM_000137.4:c.424A>T MANE Select	NP_000128.1:p.Arg142Trp
NM_001374377.1:c.424A>T	NP_001361306.1:p.Arg142Trp
NM_001374380.1:c.424A>T	NP_001361309.1:p.Arg142Trp