Canonical Allele Identifier: CA913190685

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80186162_80186163delinsCA , CM000677.2:g.80186162_80186163delinsCA	GRCh38
NC_000015.9:g.80478504_80478505delinsCA , CM000677.1:g.80478504_80478505delinsCA	GRCh37
NC_000015.8:g.78265559_78265560delinsCA	NCBI36
NG_012833.1:g.38164_38165delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.1302_1303delinsCA
ENST00000561421.6:c.1213_1214delinsCA MANE Select	ENSP00000453347.2:p.Phe405His
ENST00000646551.1:n.2827_2828delinsCA
ENST00000261755.9:c.1213_1214delinsCA	ENSP00000261755.5:p.Phe405His
ENST00000407106.5:c.1213_1214delinsCA	ENSP00000385080.1:p.Phe405His
ENST00000539156.5:c.1003_1004delinsCA	ENSP00000454271.1:p.Phe335His
ENST00000559217.1:n.430_431delinsCA
ENST00000561421.5:c.1213_1214delinsCA	ENSP00000453347.1:p.Phe405His
NM_000137.2:c.1213_1214delinsCA	NP_000128.1:p.Phe405His
XM_024449872.1:c.1213_1214delinsCA	XP_024305640.1:p.Phe405His
NM_000137.4:c.1213_1214delinsCA MANE Select	NP_000128.1:p.Phe405His
NM_001374377.1:c.1213_1214delinsCA	NP_001361306.1:p.Phe405His
NM_001374380.1:c.1213_1214delinsCA	NP_001361309.1:p.Phe405His