Canonical Allele Identifier: CA919600727

Gene: FAH

Linked Data

• dbSNP Id: rs1595890561

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80159925_80159926insAAA , CM000677.2:g.80159925_80159926insAAA	GRCh38
NC_000015.9:g.80452267_80452268insAAA , CM000677.1:g.80452267_80452268insAAA	GRCh37
NC_000015.8:g.78239322_78239323insAAA	NCBI36
NG_012833.1:g.11927_11928insAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.314+48_314+49insAAA	ENSP00000507680.1:n.314+48_314+49insAAA
ENST00000682012.1:n.389+48_389+49insAAA
ENST00000683593.1:n.191+48_191+49insAAA
ENST00000684363.1:c.314+48_314+49insAAA	ENSP00000507314.1:n.314+48_314+49insAAA
ENST00000684569.1:n.359+48_359+49insAAA
ENST00000561421.6:c.314+48_314+49insAAA MANE Select	ENSP00000453347.2:n.314+48_314+49insAAA
ENST00000646551.1:n.1801+48_1801+49insAAA
ENST00000261755.9:c.314+48_314+49insAAA	ENSP00000261755.5:n.314+48_314+49insAAA
ENST00000407106.5:c.314+48_314+49insAAA	ENSP00000385080.1:n.314+48_314+49insAAA
ENST00000537726.5:n.396+48_396+49insAAA
ENST00000539156.5:c.104+48_104+49insAAA	ENSP00000454271.1:n.104+48_104+49insAAA
ENST00000558022.5:c.314+48_314+49insAAA	ENSP00000453152.1:n.314+48_314+49insAAA
ENST00000558767.5:n.575+48_575+49insAAA
ENST00000561369.1:n.394+48_394+49insAAA
ENST00000561421.5:c.314+48_314+49insAAA	ENSP00000453347.1:n.314+48_314+49insAAA
NM_000137.2:c.314+48_314+49insAAA	NP_000128.1:n.314+48_314+49insAAA
XM_024449872.1:c.314+48_314+49insAAA	XP_024305640.1:n.314+48_314+49insAAA
NM_000137.4:c.314+48_314+49insAAA MANE Select	NP_000128.1:n.314+48_314+49insAAA
NM_001374377.1:c.314+48_314+49insAAA	NP_001361306.1:n.314+48_314+49insAAA
NM_001374380.1:c.314+48_314+49insAAA	NP_001361309.1:n.314+48_314+49insAAA