Canonical Allele Identifier: CA393621696

Gene: FAH

Linked Data

• gnomAD v4: 15-80180148-C-A
• MyVariant Identifiers: chr15:g.80472490C>A (hg19) ; chr15:g.80180148C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80180148C>A , CM000677.2:g.80180148C>A	GRCh38
NC_000015.9:g.80472490C>A , CM000677.1:g.80472490C>A	GRCh37
NC_000015.8:g.78259545C>A	NCBI36
NG_012833.1:g.32150C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.1074C>A
ENST00000561421.6:c.985C>A MANE Select	ENSP00000453347.2:p.Gln329Lys
ENST00000646551.1:n.2599C>A
ENST00000261755.9:c.985C>A	ENSP00000261755.5:p.Gln329Lys
ENST00000407106.5:c.985C>A	ENSP00000385080.1:p.Gln329Lys
ENST00000539156.5:c.775C>A	ENSP00000454271.1:p.Gln259Lys
ENST00000559217.1:n.202C>A
ENST00000561353.2:c.83C>A
ENST00000561421.5:c.985C>A	ENSP00000453347.1:p.Gln329Lys
NM_000137.2:c.985C>A	NP_000128.1:p.Gln329Lys
XM_024449872.1:c.985C>A	XP_024305640.1:p.Gln329Lys
NM_000137.4:c.985C>A MANE Select	NP_000128.1:p.Gln329Lys
NM_001374377.1:c.985C>A	NP_001361306.1:p.Gln329Lys
NM_001374380.1:c.985C>A	NP_001361309.1:p.Gln329Lys