Canonical Allele Identifier: CA393619361

Gene: FAH

Linked Data

• MyVariant Identifiers: chr15:g.80454611T>C (hg19) ; chr15:g.80162269T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80162269T>C , CM000677.2:g.80162269T>C	GRCh38
NC_000015.9:g.80454611T>C , CM000677.1:g.80454611T>C	GRCh37
NC_000015.8:g.78241666T>C	NCBI36
NG_012833.1:g.14271T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.388T>C	ENSP00000507680.1:p.Ser130Pro
ENST00000682012.1:n.463T>C
ENST00000683593.1:n.2051T>C
ENST00000684363.1:c.365-123T>C	ENSP00000507314.1:n.365-123T>C
ENST00000684569.1:n.433T>C
ENST00000561421.6:c.388T>C MANE Select	ENSP00000453347.2:p.Ser130Pro
ENST00000646551.1:n.1875T>C
ENST00000261755.9:c.388T>C	ENSP00000261755.5:p.Ser130Pro
ENST00000407106.5:c.388T>C	ENSP00000385080.1:p.Ser130Pro
ENST00000537726.5:n.534T>C
ENST00000539156.5:c.178T>C	ENSP00000454271.1:p.Ser60Pro
ENST00000558022.5:c.388T>C	ENSP00000453152.1:p.Ser130Pro
ENST00000558627.1:n.316T>C
ENST00000558767.5:n.649T>C
ENST00000561369.1:n.532T>C
ENST00000561421.5:c.388T>C	ENSP00000453347.1:p.Ser130Pro
NM_000137.2:c.388T>C	NP_000128.1:p.Ser130Pro
XM_024449872.1:c.388T>C	XP_024305640.1:p.Ser130Pro
NM_000137.4:c.388T>C MANE Select	NP_000128.1:p.Ser130Pro
NM_001374377.1:c.388T>C	NP_001361306.1:p.Ser130Pro
NM_001374380.1:c.388T>C	NP_001361309.1:p.Ser130Pro