Canonical Allele Identifier: CA393621614

Gene: FAH

Linked Data

• dbSNP Id: rs2041295289
• gnomAD v4: 15-80177578-T-G
• MyVariant Identifiers: chr15:g.80469920T>G (hg19) ; chr15:g.80177578T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80177578T>G , CM000677.2:g.80177578T>G	GRCh38
NC_000015.9:g.80469920T>G , CM000677.1:g.80469920T>G	GRCh37
NC_000015.8:g.78256975T>G	NCBI36
NG_012833.1:g.29580T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.1044T>G
ENST00000561421.6:c.955T>G MANE Select	ENSP00000453347.2:p.Phe319Val
ENST00000646551.1:n.2569T>G
ENST00000261755.9:c.955T>G	ENSP00000261755.5:p.Phe319Val
ENST00000407106.5:c.955T>G	ENSP00000385080.1:p.Phe319Val
ENST00000539156.5:c.745T>G	ENSP00000454271.1:p.Phe249Val
ENST00000559217.1:n.172T>G
ENST00000561353.2:c.53T>G
ENST00000561421.5:c.955T>G	ENSP00000453347.1:p.Phe319Val
NM_000137.2:c.955T>G	NP_000128.1:p.Phe319Val
XM_024449872.1:c.955T>G	XP_024305640.1:p.Phe319Val
NM_000137.4:c.955T>G MANE Select	NP_000128.1:p.Phe319Val
NM_001374377.1:c.955T>G	NP_001361306.1:p.Phe319Val
NM_001374380.1:c.955T>G	NP_001361309.1:p.Phe319Val