Canonical Allele Identifier: CA2190327648

Gene: FAH

Linked Data

• dbSNP Id: rs1595888449
• gnomAD v4: 15-80152919-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152919G>T , CM000677.2:g.80152919G>T	GRCh38
NC_000015.9:g.80445261G>T , CM000677.1:g.80445261G>T	GRCh37
NC_000015.8:g.78232316G>T	NCBI36
NG_012833.1:g.4921G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.-136G>T	ENSP00000507680.1:n.-136G>T
ENST00000261755.9:c.-30+78G>T	ENSP00000261755.5:n.-30+78G>T
ENST00000407106.5:c.-30+14G>T	ENSP00000385080.1:n.-30+14G>T
ENST00000537726.5:n.53+78G>T
ENST00000558022.5:c.-29-107G>T	ENSP00000453152.1:n.-29-107G>T
ENST00000558767.5:n.126G>T
ENST00000561369.1:n.51+14G>T
ENST00000561421.5:c.-136G>T	ENSP00000453347.1:n.-136G>T
NM_000137.2:c.-136G>T	NP_000128.1:n.-136G>T
XM_024449872.1:c.-30+14G>T	XP_024305640.1:n.-30+14G>T
NM_001374377.1:c.-30+14G>T	NP_001361306.1:n.-30+14G>T
NM_001374380.1:c.-30+78G>T	NP_001361309.1:n.-30+78G>T