Canonical Allele Identifier: CA16041756
Gene: FAH HGNC NCBI

Linked Data

ClinVar Variation Id: 370684
ClinVar RCV Id: RCV000412142
dbSNP Id: rs1057516684
MyVariant Identifiers: chr15:g.80460399_80460429del (hg19) chr15:g.80168057_80168087del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80168057_80168087del , CM000677.2:g.80168057_80168087del GRCh38
NC_000015.9:g.80460399_80460429del , CM000677.1:g.80460399_80460429del GRCh37
NC_000015.8:g.78247454_78247484del NCBI36
NG_012833.1:g.20059_20089del

Transcript Alleles

HGVS Amino-acid change
ENST00000682012.1:n.536_566del
ENST00000684569.1:n.506_536del
ENST00000561421.6:c.461_491del MANE Select ENSP00000453347.2:p.His154ProfsTer17
ENST00000646551.1:n.2088_2118del
ENST00000261755.9:c.461_491del ENSP00000261755.5:p.His154ProfsTer17
ENST00000407106.5:c.461_491del ENSP00000385080.1:p.His154ProfsTer17
ENST00000539156.5:c.251_281del ENSP00000454271.1:p.His84ProfsTer17
ENST00000558514.1:n.7_37del
ENST00000558627.1:n.389_419del
ENST00000561421.5:c.461_491del ENSP00000453347.1:p.His154ProfsTer17
NM_000137.2:c.461_491del NP_000128.1:p.His154ProfsTer17
XM_024449872.1:c.461_491del XP_024305640.1:p.His154ProfsTer17
NM_000137.4:c.461_491del MANE Select NP_000128.1:p.His154ProfsTer17
NM_001374377.1:c.461_491del NP_001361306.1:p.His154ProfsTer17
NM_001374380.1:c.461_491del NP_001361309.1:p.His154ProfsTer17
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