Canonical Allele Identifier: CA393620423

Gene: FAH

Linked Data

• ClinVar Variation Id: 962208
• ClinVar RCV Id: RCV001236021
• dbSNP Id: rs2041246277
• MyVariant Identifiers: chr15:g.80464499T>A (hg19) ; chr15:g.80172157T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80172157T>A , CM000677.2:g.80172157T>A	GRCh38
NC_000015.9:g.80464499T>A , CM000677.1:g.80464499T>A	GRCh37
NC_000015.8:g.78251554T>A	NCBI36
NG_012833.1:g.24159T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682012.1:n.796-857T>A
ENST00000561421.6:c.615T>A MANE Select	ENSP00000453347.2:p.Phe205Leu
ENST00000646551.1:n.2234-5T>A
ENST00000261755.9:c.615T>A	ENSP00000261755.5:p.Phe205Leu
ENST00000407106.5:c.615T>A	ENSP00000385080.1:p.Phe205Leu
ENST00000539156.5:c.405T>A	ENSP00000454271.1:p.Phe135Leu
ENST00000558627.1:n.543T>A
ENST00000561421.5:c.615T>A	ENSP00000453347.1:p.Phe205Leu
NM_000137.2:c.615T>A	NP_000128.1:p.Phe205Leu
XM_024449872.1:c.615T>A	XP_024305640.1:p.Phe205Leu
NM_000137.4:c.615T>A MANE Select	NP_000128.1:p.Phe205Leu
NM_001374377.1:c.615T>A	NP_001361306.1:p.Phe205Leu
NM_001374380.1:c.615T>A	NP_001361309.1:p.Phe205Leu