Canonical Allele Identifier: CA2190340934

Gene: FAH

Linked Data

• dbSNP Id: rs1595896372

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80177591T>G , CM000677.2:g.80177591T>G	GRCh38
NC_000015.9:g.80469933T>G , CM000677.1:g.80469933T>G	GRCh37
NC_000015.8:g.78256988T>G	NCBI36
NG_012833.1:g.29593T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.1049+8T>G
ENST00000561421.6:c.960+8T>G MANE Select	ENSP00000453347.2:n.960+8T>G
ENST00000646551.1:n.2574+8T>G
ENST00000261755.9:c.960+8T>G	ENSP00000261755.5:n.960+8T>G
ENST00000407106.5:c.960+8T>G	ENSP00000385080.1:n.960+8T>G
ENST00000539156.5:c.750+8T>G	ENSP00000454271.1:n.750+8T>G
ENST00000559217.1:n.177+8T>G
ENST00000561353.2:c.58+8T>G
ENST00000561421.5:c.960+8T>G	ENSP00000453347.1:n.960+8T>G
NM_000137.2:c.960+8T>G	NP_000128.1:n.960+8T>G
XM_024449872.1:c.960+8T>G	XP_024305640.1:n.960+8T>G
NM_000137.4:c.960+8T>G MANE Select	NP_000128.1:n.960+8T>G
NM_001374377.1:c.960+8T>G	NP_001361306.1:n.960+8T>G
NM_001374380.1:c.960+8T>G	NP_001361309.1:n.960+8T>G