Canonical Allele Identifier: CA7691145

Gene: FAH

Linked Data

• ClinVar Variation Id: 557452
• ClinVar RCV Id: RCV000673595
• dbSNP Id: rs775152764
• ExAC: 15:80454621 A / T
• gnomAD v2: 15-80454621-A-T
• gnomAD v3: 15-80162279-A-T
• gnomAD v4: 15-80162279-A-T
• MyVariant Identifiers: chr15:g.80454621A>T (hg19) ; chr15:g.80162279A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80162279A>T , CM000677.2:g.80162279A>T	GRCh38
NC_000015.9:g.80454621A>T , CM000677.1:g.80454621A>T	GRCh37
NC_000015.8:g.78241676A>T	NCBI36
NG_012833.1:g.14281A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.398A>T	ENSP00000507680.1:p.His133Leu
ENST00000682012.1:n.473A>T
ENST00000683593.1:n.2061A>T
ENST00000684363.1:c.365-113A>T	ENSP00000507314.1:n.365-113A>T
ENST00000684569.1:n.443A>T
ENST00000561421.6:c.398A>T MANE Select	ENSP00000453347.2:p.His133Leu
ENST00000646551.1:n.1885A>T
ENST00000261755.9:c.398A>T	ENSP00000261755.5:p.His133Leu
ENST00000407106.5:c.398A>T	ENSP00000385080.1:p.His133Leu
ENST00000537726.5:n.544A>T
ENST00000539156.5:c.188A>T	ENSP00000454271.1:p.His63Leu
ENST00000558022.5:c.398A>T	ENSP00000453152.1:p.His133Leu
ENST00000558627.1:n.326A>T
ENST00000558767.5:n.659A>T
ENST00000561369.1:n.542A>T
ENST00000561421.5:c.398A>T	ENSP00000453347.1:p.His133Leu
NM_000137.2:c.398A>T	NP_000128.1:p.His133Leu
XM_024449872.1:c.398A>T	XP_024305640.1:p.His133Leu
NM_000137.4:c.398A>T MANE Select	NP_000128.1:p.His133Leu
NM_001374377.1:c.398A>T	NP_001361306.1:p.His133Leu
NM_001374380.1:c.398A>T	NP_001361309.1:p.His133Leu