Canonical Allele Identifier: CA971898448

Gene: FAH

Linked Data

• dbSNP Id: rs2041293497
• gnomAD v3: 15-80177484-C-T
• gnomAD v4: 15-80177484-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80177484C>T , CM000677.2:g.80177484C>T	GRCh38
NC_000015.9:g.80469826C>T , CM000677.1:g.80469826C>T	GRCh37
NC_000015.8:g.78256881C>T	NCBI36
NG_012833.1:g.29486C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682012.1:n.1003-53C>T
ENST00000561421.6:c.914-53C>T MANE Select	ENSP00000453347.2:n.914-53C>T
ENST00000646551.1:n.2528-53C>T
ENST00000261755.9:c.914-53C>T	ENSP00000261755.5:n.914-53C>T
ENST00000407106.5:c.914-53C>T	ENSP00000385080.1:n.914-53C>T
ENST00000539156.5:c.704-53C>T	ENSP00000454271.1:n.704-53C>T
ENST00000559217.1:n.78C>T
ENST00000561353.2:c.12-53C>T
ENST00000561421.5:c.914-53C>T	ENSP00000453347.1:n.914-53C>T
NM_000137.2:c.914-53C>T	NP_000128.1:n.914-53C>T
XM_024449872.1:c.914-53C>T	XP_024305640.1:n.914-53C>T
NM_000137.4:c.914-53C>T MANE Select	NP_000128.1:n.914-53C>T
NM_001374377.1:c.914-53C>T	NP_001361306.1:n.914-53C>T
NM_001374380.1:c.914-53C>T	NP_001361309.1:n.914-53C>T