Canonical Allele Identifier: CA2629879926

Gene: FAH

Linked Data

• gnomAD v4: 15-80177512-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80177512T>G , CM000677.2:g.80177512T>G	GRCh38
NC_000015.9:g.80469854T>G , CM000677.1:g.80469854T>G	GRCh37
NC_000015.8:g.78256909T>G	NCBI36
NG_012833.1:g.29514T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.1003-25T>G
ENST00000561421.6:c.914-25T>G MANE Select	ENSP00000453347.2:n.914-25T>G
ENST00000646551.1:n.2528-25T>G
ENST00000261755.9:c.914-25T>G	ENSP00000261755.5:n.914-25T>G
ENST00000407106.5:c.914-25T>G	ENSP00000385080.1:n.914-25T>G
ENST00000539156.5:c.704-25T>G	ENSP00000454271.1:n.704-25T>G
ENST00000559217.1:n.106T>G
ENST00000561353.2:c.12-25T>G
ENST00000561421.5:c.914-25T>G	ENSP00000453347.1:n.914-25T>G
NM_000137.2:c.914-25T>G	NP_000128.1:n.914-25T>G
XM_024449872.1:c.914-25T>G	XP_024305640.1:n.914-25T>G
NM_000137.4:c.914-25T>G MANE Select	NP_000128.1:n.914-25T>G
NM_001374377.1:c.914-25T>G	NP_001361306.1:n.914-25T>G
NM_001374380.1:c.914-25T>G	NP_001361309.1:n.914-25T>G