Canonical Allele Identifier: CA393619359

Gene: FAH

Linked Data

• ClinVar Variation Id: 2785104
• ClinVar RCV Id: RCV003633850
• MyVariant Identifiers: chr15:g.80454609C>T (hg19) ; chr15:g.80162267C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80162267C>T , CM000677.2:g.80162267C>T	GRCh38
NC_000015.9:g.80454609C>T , CM000677.1:g.80454609C>T	GRCh37
NC_000015.8:g.78241664C>T	NCBI36
NG_012833.1:g.14269C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.386C>T	ENSP00000507680.1:p.Ser129Phe
ENST00000682012.1:n.461C>T
ENST00000683593.1:n.2049C>T
ENST00000684363.1:c.365-125C>T	ENSP00000507314.1:n.365-125C>T
ENST00000684569.1:n.431C>T
ENST00000561421.6:c.386C>T MANE Select	ENSP00000453347.2:p.Ser129Phe
ENST00000646551.1:n.1873C>T
ENST00000261755.9:c.386C>T	ENSP00000261755.5:p.Ser129Phe
ENST00000407106.5:c.386C>T	ENSP00000385080.1:p.Ser129Phe
ENST00000537726.5:n.532C>T
ENST00000539156.5:c.176C>T	ENSP00000454271.1:p.Ser59Phe
ENST00000558022.5:c.386C>T	ENSP00000453152.1:p.Ser129Phe
ENST00000558627.1:n.314C>T
ENST00000558767.5:n.647C>T
ENST00000561369.1:n.530C>T
ENST00000561421.5:c.386C>T	ENSP00000453347.1:p.Ser129Phe
NM_000137.2:c.386C>T	NP_000128.1:p.Ser129Phe
XM_024449872.1:c.386C>T	XP_024305640.1:p.Ser129Phe
NM_000137.4:c.386C>T MANE Select	NP_000128.1:p.Ser129Phe
NM_001374377.1:c.386C>T	NP_001361306.1:p.Ser129Phe
NM_001374380.1:c.386C>T	NP_001361309.1:p.Ser129Phe