Canonical Allele Identifier: CA393621779

Gene: FAH

Linked Data

• MyVariant Identifiers: chr15:g.80472529C>G (hg19) ; chr15:g.80180187C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80180187C>G , CM000677.2:g.80180187C>G	GRCh38
NC_000015.9:g.80472529C>G , CM000677.1:g.80472529C>G	GRCh37
NC_000015.8:g.78259584C>G	NCBI36
NG_012833.1:g.32189C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682012.1:n.1113C>G
ENST00000561421.6:c.1024C>G MANE Select	ENSP00000453347.2:p.Pro342Ala
ENST00000646551.1:n.2638C>G
ENST00000261755.9:c.1024C>G	ENSP00000261755.5:p.Pro342Ala
ENST00000407106.5:c.1024C>G	ENSP00000385080.1:p.Pro342Ala
ENST00000539156.5:c.814C>G	ENSP00000454271.1:p.Pro272Ala
ENST00000559217.1:n.241C>G
ENST00000561353.2:c.122C>G
ENST00000561421.5:c.1024C>G	ENSP00000453347.1:p.Pro342Ala
NM_000137.2:c.1024C>G	NP_000128.1:p.Pro342Ala
XM_024449872.1:c.1024C>G	XP_024305640.1:p.Pro342Ala
NM_000137.4:c.1024C>G MANE Select	NP_000128.1:p.Pro342Ala
NM_001374377.1:c.1024C>G	NP_001361306.1:p.Pro342Ala
NM_001374380.1:c.1024C>G	NP_001361309.1:p.Pro342Ala