Canonical Allele Identifier: CA7691213

Gene: FAH

Linked Data

• ClinVar Variation Id: 255282
• ClinVar RCV Id: RCV000243641 ; RCV001597001 ; RCV001533486
• dbSNP Id: rs1545119
• ExAC: 15:80460524 A / G
• gnomAD v2: 15-80460524-A-G
• gnomAD v3: 15-80168182-A-G
• gnomAD v4: 15-80168182-A-G
• MyVariant Identifiers: chr15:g.80460524A>G (hg19) ; chr15:g.80168182A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168182A>G , CM000677.2:g.80168182A>G	GRCh38
NC_000015.9:g.80460524A>G , CM000677.1:g.80460524A>G	GRCh37
NC_000015.8:g.78247579A>G	NCBI36
NG_012833.1:g.20184A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.661A>G
ENST00000684569.1:n.598+33A>G
ENST00000561421.6:c.553+33A>G MANE Select	ENSP00000453347.2:n.553+33A>G
ENST00000646551.1:n.2180+33A>G
ENST00000261755.9:c.553+33A>G	ENSP00000261755.5:n.553+33A>G
ENST00000407106.5:c.553+33A>G	ENSP00000385080.1:n.553+33A>G
ENST00000539156.5:c.343+33A>G	ENSP00000454271.1:n.343+33A>G
ENST00000558514.1:n.99+33A>G
ENST00000558627.1:n.481+33A>G
ENST00000561421.5:c.553+33A>G	ENSP00000453347.1:n.553+33A>G
NM_000137.2:c.553+33A>G	NP_000128.1:n.553+33A>G
XM_024449872.1:c.553+33A>G	XP_024305640.1:n.553+33A>G
NM_000137.4:c.553+33A>G MANE Select	NP_000128.1:n.553+33A>G
NM_001374377.1:c.553+33A>G	NP_001361306.1:n.553+33A>G
NM_001374380.1:c.553+33A>G	NP_001361309.1:n.553+33A>G