Canonical Allele Identifier: CA491671994

Gene: FAH

Linked Data

• MyVariant Identifiers: chr15:g.80445450C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80153108C>T , CM000677.2:g.80153108C>T	GRCh38
NC_000015.9:g.80445450C>T , CM000677.1:g.80445450C>T	GRCh37
NC_000015.8:g.78232505C>T	NCBI36
NG_012833.1:g.5110C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.54C>T	ENSP00000507680.1:p.Pro18=
ENST00000682012.1:n.129C>T
ENST00000684363.1:c.54C>T	ENSP00000507314.1:p.Pro18=
ENST00000684569.1:n.99C>T
ENST00000561421.6:c.54C>T MANE Select	ENSP00000453347.2:p.Pro18=
ENST00000261755.9:c.54C>T	ENSP00000261755.5:p.Pro18=
ENST00000407106.5:c.54C>T	ENSP00000385080.1:p.Pro18=
ENST00000537726.5:n.136C>T
ENST00000558022.5:c.54C>T	ENSP00000453152.1:p.Pro18=
ENST00000558767.5:n.315C>T
ENST00000561369.1:n.134C>T
ENST00000561421.5:c.54C>T	ENSP00000453347.1:p.Pro18=
NM_000137.2:c.54C>T	NP_000128.1:p.Pro18=
XM_024449872.1:c.54C>T	XP_024305640.1:p.Pro18=
NM_000137.4:c.54C>T MANE Select	NP_000128.1:p.Pro18=
NM_001374377.1:c.54C>T	NP_001361306.1:p.Pro18=
NM_001374380.1:c.54C>T	NP_001361309.1:p.Pro18=