Canonical Allele Identifier: CA393619363

Gene: FAH

Linked Data

• dbSNP Id: rs1429062186
• gnomAD v2: 15-80454612-C-A
• gnomAD v4: 15-80162270-C-A
• MyVariant Identifiers: chr15:g.80454612C>A (hg19) ; chr15:g.80162270C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80162270C>A , CM000677.2:g.80162270C>A	GRCh38
NC_000015.9:g.80454612C>A , CM000677.1:g.80454612C>A	GRCh37
NC_000015.8:g.78241667C>A	NCBI36
NG_012833.1:g.14272C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.389C>A	ENSP00000507680.1:p.Ser130Tyr
ENST00000682012.1:n.464C>A
ENST00000683593.1:n.2052C>A
ENST00000684363.1:c.365-122C>A	ENSP00000507314.1:n.365-122C>A
ENST00000684569.1:n.434C>A
ENST00000561421.6:c.389C>A MANE Select	ENSP00000453347.2:p.Ser130Tyr
ENST00000646551.1:n.1876C>A
ENST00000261755.9:c.389C>A	ENSP00000261755.5:p.Ser130Tyr
ENST00000407106.5:c.389C>A	ENSP00000385080.1:p.Ser130Tyr
ENST00000537726.5:n.535C>A
ENST00000539156.5:c.179C>A	ENSP00000454271.1:p.Ser60Tyr
ENST00000558022.5:c.389C>A	ENSP00000453152.1:p.Ser130Tyr
ENST00000558627.1:n.317C>A
ENST00000558767.5:n.650C>A
ENST00000561369.1:n.533C>A
ENST00000561421.5:c.389C>A	ENSP00000453347.1:p.Ser130Tyr
NM_000137.2:c.389C>A	NP_000128.1:p.Ser130Tyr
XM_024449872.1:c.389C>A	XP_024305640.1:p.Ser130Tyr
NM_000137.4:c.389C>A MANE Select	NP_000128.1:p.Ser130Tyr
NM_001374377.1:c.389C>A	NP_001361306.1:p.Ser130Tyr
NM_001374380.1:c.389C>A	NP_001361309.1:p.Ser130Tyr