Canonical Allele Identifier: CA2629879954

Gene: FAH

Linked Data

• gnomAD v4: 15-80177610-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80177610T>C , CM000677.2:g.80177610T>C	GRCh38
NC_000015.9:g.80469952T>C , CM000677.1:g.80469952T>C	GRCh37
NC_000015.8:g.78257007T>C	NCBI36
NG_012833.1:g.29612T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.1049+27T>C
ENST00000561421.6:c.960+27T>C MANE Select	ENSP00000453347.2:n.960+27T>C
ENST00000646551.1:n.2574+27T>C
ENST00000261755.9:c.960+27T>C	ENSP00000261755.5:n.960+27T>C
ENST00000407106.5:c.960+27T>C	ENSP00000385080.1:n.960+27T>C
ENST00000539156.5:c.750+27T>C	ENSP00000454271.1:n.750+27T>C
ENST00000559217.1:n.177+27T>C
ENST00000561353.2:c.58+27T>C
ENST00000561421.5:c.960+27T>C	ENSP00000453347.1:n.960+27T>C
NM_000137.2:c.960+27T>C	NP_000128.1:n.960+27T>C
XM_024449872.1:c.960+27T>C	XP_024305640.1:n.960+27T>C
NM_000137.4:c.960+27T>C MANE Select	NP_000128.1:n.960+27T>C
NM_001374377.1:c.960+27T>C	NP_001361306.1:n.960+27T>C
NM_001374380.1:c.960+27T>C	NP_001361309.1:n.960+27T>C