Canonical Allele Identifier: CA393621549

Gene: FAH

Linked Data

• MyVariant Identifiers: chr15:g.80469890A>T (hg19) ; chr15:g.80177548A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80177548A>T , CM000677.2:g.80177548A>T	GRCh38
NC_000015.9:g.80469890A>T , CM000677.1:g.80469890A>T	GRCh37
NC_000015.8:g.78256945A>T	NCBI36
NG_012833.1:g.29550A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.1014A>T
ENST00000561421.6:c.925A>T MANE Select	ENSP00000453347.2:p.Ser309Cys
ENST00000646551.1:n.2539A>T
ENST00000261755.9:c.925A>T	ENSP00000261755.5:p.Ser309Cys
ENST00000407106.5:c.925A>T	ENSP00000385080.1:p.Ser309Cys
ENST00000539156.5:c.715A>T	ENSP00000454271.1:p.Ser239Cys
ENST00000559217.1:n.142A>T
ENST00000561353.2:c.23A>T
ENST00000561421.5:c.925A>T	ENSP00000453347.1:p.Ser309Cys
NM_000137.2:c.925A>T	NP_000128.1:p.Ser309Cys
XM_024449872.1:c.925A>T	XP_024305640.1:p.Ser309Cys
NM_000137.4:c.925A>T MANE Select	NP_000128.1:p.Ser309Cys
NM_001374377.1:c.925A>T	NP_001361306.1:p.Ser309Cys
NM_001374380.1:c.925A>T	NP_001361309.1:p.Ser309Cys