Canonical Allele Identifier: CA491682725

Gene: FAH

Linked Data

• gnomAD v2: 15-80460594-G-GTTT
• gnomAD v3: 15-80168252-G-GTTT
• gnomAD v4: 15-80168252-G-GTTT
• MyVariant Identifiers: chr15:g.80460594_80460595insTTT (hg19) ; chr15:g.80168252_80168253insTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168253_80168254insTTT , CM000677.2:g.80168253_80168254insTTT	GRCh38
NC_000015.9:g.80460595_80460596insTTT , CM000677.1:g.80460595_80460596insTTT	GRCh37
NC_000015.8:g.78247650_78247651insTTT	NCBI36
NG_012833.1:g.20255_20256insTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.732_733insTTT
ENST00000684569.1:n.599-11_599-10insTTT
ENST00000561421.6:c.554-11_554-10insTTT MANE Select	ENSP00000453347.2:n.554-11_554-10insTTT
ENST00000646551.1:n.2181-11_2181-10insTTT
ENST00000261755.9:c.554-11_554-10insTTT	ENSP00000261755.5:n.554-11_554-10insTTT
ENST00000407106.5:c.554-11_554-10insTTT	ENSP00000385080.1:n.554-11_554-10insTTT
ENST00000539156.5:c.344-11_344-10insTTT	ENSP00000454271.1:n.344-11_344-10insTTT
ENST00000558514.1:n.100-11_100-10insTTT
ENST00000558627.1:n.482-11_482-10insTTT
ENST00000561421.5:c.554-11_554-10insTTT	ENSP00000453347.1:n.554-11_554-10insTTT
NM_000137.2:c.554-11_554-10insTTT	NP_000128.1:n.554-11_554-10insTTT
XM_024449872.1:c.554-11_554-10insTTT	XP_024305640.1:n.554-11_554-10insTTT
NM_000137.4:c.554-11_554-10insTTT MANE Select	NP_000128.1:n.554-11_554-10insTTT
NM_001374377.1:c.554-11_554-10insTTT	NP_001361306.1:n.554-11_554-10insTTT
NM_001374380.1:c.554-11_554-10insTTT	NP_001361309.1:n.554-11_554-10insTTT