Canonical Allele Identifier: CA393619775

Gene: FAH

Linked Data

• gnomAD v4: 15-80168059-T-G
• MyVariant Identifiers: chr15:g.80460401T>G (hg19) ; chr15:g.80168059T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168059T>G , CM000677.2:g.80168059T>G	GRCh38
NC_000015.9:g.80460401T>G , CM000677.1:g.80460401T>G	GRCh37
NC_000015.8:g.78247456T>G	NCBI36
NG_012833.1:g.20061T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.538T>G
ENST00000684569.1:n.508T>G
ENST00000561421.6:c.463T>G MANE Select	ENSP00000453347.2:p.Leu155Val
ENST00000646551.1:n.2090T>G
ENST00000261755.9:c.463T>G	ENSP00000261755.5:p.Leu155Val
ENST00000407106.5:c.463T>G	ENSP00000385080.1:p.Leu155Val
ENST00000539156.5:c.253T>G	ENSP00000454271.1:p.Leu85Val
ENST00000558022.5:c.463T>G	ENSP00000453152.1:p.Leu155Val
ENST00000558514.1:n.9T>G
ENST00000558627.1:n.391T>G
ENST00000561421.5:c.463T>G	ENSP00000453347.1:p.Leu155Val
NM_000137.2:c.463T>G	NP_000128.1:p.Leu155Val
XM_024449872.1:c.463T>G	XP_024305640.1:p.Leu155Val
NM_000137.4:c.463T>G MANE Select	NP_000128.1:p.Leu155Val
NM_001374377.1:c.463T>G	NP_001361306.1:p.Leu155Val
NM_001374380.1:c.463T>G	NP_001361309.1:p.Leu155Val