Canonical Allele Identifier: CA491688753

Gene: FAH

Linked Data

• ClinVar Variation Id: 1124469
• ClinVar RCV Id: RCV001455828
• dbSNP Id: rs2142112674
• gnomAD v4: 15-80186188-G-T
• MyVariant Identifiers: chr15:g.80478530G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80186188G>T , CM000677.2:g.80186188G>T	GRCh38
NC_000015.9:g.80478530G>T , CM000677.1:g.80478530G>T	GRCh37
NC_000015.8:g.78265585G>T	NCBI36
NG_012833.1:g.38190G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.1328G>T
ENST00000561421.6:c.1239G>T MANE Select	ENSP00000453347.2:p.Leu413=
ENST00000646551.1:n.2853G>T
ENST00000261755.9:c.1239G>T	ENSP00000261755.5:p.Leu413=
ENST00000407106.5:c.1239G>T	ENSP00000385080.1:p.Leu413=
ENST00000539156.5:c.1029G>T	ENSP00000454271.1:p.Leu343=
ENST00000559217.1:n.456G>T
ENST00000561421.5:c.1239G>T	ENSP00000453347.1:p.Leu413=
NM_000137.2:c.1239G>T	NP_000128.1:p.Leu413=
XM_024449872.1:c.1239G>T	XP_024305640.1:p.Leu413=
NM_000137.4:c.1239G>T MANE Select	NP_000128.1:p.Leu413=
NM_001374377.1:c.1239G>T	NP_001361306.1:p.Leu413=
NM_001374380.1:c.1239G>T	NP_001361309.1:p.Leu413=