Canonical Allele Identifier: CA716107380

Gene: FAH

Linked Data

• dbSNP Id: rs1545119
• gnomAD v3: 15-80168182-A-T
• gnomAD v4: 15-80168182-A-T
• MyVariant Identifiers: chr15:g.80460524A>T (hg19) ; chr15:g.80168182A>T (hg38)

Genomic Alleles

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

Transcript Alleles

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