Canonical Allele Identifier: CA393621758

Gene: FAH

Linked Data

• ClinVar Variation Id: 2183248
• ClinVar RCV Id: RCV002615417
• gnomAD v4: 15-80180176-G-A
• MyVariant Identifiers: chr15:g.80472518G>A (hg19) ; chr15:g.80180176G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80180176G>A , CM000677.2:g.80180176G>A	GRCh38
NC_000015.9:g.80472518G>A , CM000677.1:g.80472518G>A	GRCh37
NC_000015.8:g.78259573G>A	NCBI36
NG_012833.1:g.32178G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.1102G>A
ENST00000561421.6:c.1013G>A MANE Select	ENSP00000453347.2:p.Cys338Tyr
ENST00000646551.1:n.2627G>A
ENST00000261755.9:c.1013G>A	ENSP00000261755.5:p.Cys338Tyr
ENST00000407106.5:c.1013G>A	ENSP00000385080.1:p.Cys338Tyr
ENST00000539156.5:c.803G>A	ENSP00000454271.1:p.Cys268Tyr
ENST00000559217.1:n.230G>A
ENST00000561353.2:c.111G>A
ENST00000561421.5:c.1013G>A	ENSP00000453347.1:p.Cys338Tyr
NM_000137.2:c.1013G>A	NP_000128.1:p.Cys338Tyr
XM_024449872.1:c.1013G>A	XP_024305640.1:p.Cys338Tyr
NM_000137.4:c.1013G>A MANE Select	NP_000128.1:p.Cys338Tyr
NM_001374377.1:c.1013G>A	NP_001361306.1:p.Cys338Tyr
NM_001374380.1:c.1013G>A	NP_001361309.1:p.Cys338Tyr