Canonical Allele Identifier: CA393619481

Gene: FAH

Linked Data

• MyVariant Identifiers: chr15:g.80454668A>C (hg19) ; chr15:g.80162326A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80162326A>C , CM000677.2:g.80162326A>C	GRCh38
NC_000015.9:g.80454668A>C , CM000677.1:g.80454668A>C	GRCh37
NC_000015.8:g.78241723A>C	NCBI36
NG_012833.1:g.14328A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.445A>C	ENSP00000507680.1:p.Met149Leu
ENST00000682012.1:n.520A>C
ENST00000683593.1:n.2108A>C
ENST00000684363.1:c.365-66A>C	ENSP00000507314.1:n.365-66A>C
ENST00000684569.1:n.490A>C
ENST00000561421.6:c.445A>C MANE Select	ENSP00000453347.2:p.Met149Leu
ENST00000646551.1:n.1932A>C
ENST00000261755.9:c.445A>C	ENSP00000261755.5:p.Met149Leu
ENST00000407106.5:c.445A>C	ENSP00000385080.1:p.Met149Leu
ENST00000537726.5:n.591A>C
ENST00000539156.5:c.235A>C	ENSP00000454271.1:p.Met79Leu
ENST00000558022.5:c.445A>C	ENSP00000453152.1:p.Met149Leu
ENST00000558627.1:n.373A>C
ENST00000558767.5:n.706A>C
ENST00000561369.1:n.589A>C
ENST00000561421.5:c.445A>C	ENSP00000453347.1:p.Met149Leu
NM_000137.2:c.445A>C	NP_000128.1:p.Met149Leu
XM_024449872.1:c.445A>C	XP_024305640.1:p.Met149Leu
NM_000137.4:c.445A>C MANE Select	NP_000128.1:p.Met149Leu
NM_001374377.1:c.445A>C	NP_001361306.1:p.Met149Leu
NM_001374380.1:c.445A>C	NP_001361309.1:p.Met149Leu