Canonical Allele Identifier: CA491684665

Gene: FAH

Linked Data

• MyVariant Identifiers: chr15:g.80464496T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80172154T>C , CM000677.2:g.80172154T>C	GRCh38
NC_000015.9:g.80464496T>C , CM000677.1:g.80464496T>C	GRCh37
NC_000015.8:g.78251551T>C	NCBI36
NG_012833.1:g.24156T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682012.1:n.796-860T>C
ENST00000561421.6:c.612T>C MANE Select	ENSP00000453347.2:p.Phe204=
ENST00000646551.1:n.2234-8T>C
ENST00000261755.9:c.612T>C	ENSP00000261755.5:p.Phe204=
ENST00000407106.5:c.612T>C	ENSP00000385080.1:p.Phe204=
ENST00000539156.5:c.402T>C	ENSP00000454271.1:p.Phe134=
ENST00000558627.1:n.540T>C
ENST00000561421.5:c.612T>C	ENSP00000453347.1:p.Phe204=
NM_000137.2:c.612T>C	NP_000128.1:p.Phe204=
XM_024449872.1:c.612T>C	XP_024305640.1:p.Phe204=
NM_000137.4:c.612T>C MANE Select	NP_000128.1:p.Phe204=
NM_001374377.1:c.612T>C	NP_001361306.1:p.Phe204=
NM_001374380.1:c.612T>C	NP_001361309.1:p.Phe204=