Canonical Allele Identifier: CA393619480

Gene: FAH

Linked Data

• MyVariant Identifiers: chr15:g.80454667G>T (hg19) ; chr15:g.80162325G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80162325G>T , CM000677.2:g.80162325G>T	GRCh38
NC_000015.9:g.80454667G>T , CM000677.1:g.80454667G>T	GRCh37
NC_000015.8:g.78241722G>T	NCBI36
NG_012833.1:g.14327G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.444G>T	ENSP00000507680.1:p.Leu148Phe
ENST00000682012.1:n.519G>T
ENST00000683593.1:n.2107G>T
ENST00000684363.1:c.365-67G>T	ENSP00000507314.1:n.365-67G>T
ENST00000684569.1:n.489G>T
ENST00000561421.6:c.444G>T MANE Select	ENSP00000453347.2:p.Leu148Phe
ENST00000646551.1:n.1931G>T
ENST00000261755.9:c.444G>T	ENSP00000261755.5:p.Leu148Phe
ENST00000407106.5:c.444G>T	ENSP00000385080.1:p.Leu148Phe
ENST00000537726.5:n.590G>T
ENST00000539156.5:c.234G>T	ENSP00000454271.1:p.Leu78Phe
ENST00000558022.5:c.444G>T	ENSP00000453152.1:p.Leu148Phe
ENST00000558627.1:n.372G>T
ENST00000558767.5:n.705G>T
ENST00000561369.1:n.588G>T
ENST00000561421.5:c.444G>T	ENSP00000453347.1:p.Leu148Phe
NM_000137.2:c.444G>T	NP_000128.1:p.Leu148Phe
XM_024449872.1:c.444G>T	XP_024305640.1:p.Leu148Phe
NM_000137.4:c.444G>T MANE Select	NP_000128.1:p.Leu148Phe
NM_001374377.1:c.444G>T	NP_001361306.1:p.Leu148Phe
NM_001374380.1:c.444G>T	NP_001361309.1:p.Leu148Phe