Canonical Allele Identifier: CA2575809750

Gene: FAH

Linked Data

• gnomAD v4: 15-80168375-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168375T>C , CM000677.2:g.80168375T>C	GRCh38
NC_000015.9:g.80460717T>C , CM000677.1:g.80460717T>C	GRCh37
NC_000015.8:g.78247772T>C	NCBI36
NG_012833.1:g.20377T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.795+59T>C
ENST00000684569.1:n.651+59T>C
ENST00000561421.6:c.606+59T>C MANE Select	ENSP00000453347.2:n.606+59T>C
ENST00000646551.1:n.2233+59T>C
ENST00000261755.9:c.606+59T>C	ENSP00000261755.5:n.606+59T>C
ENST00000407106.5:c.606+59T>C	ENSP00000385080.1:n.606+59T>C
ENST00000539156.5:c.396+59T>C	ENSP00000454271.1:n.396+59T>C
ENST00000558514.1:n.211T>C
ENST00000558627.1:n.534+59T>C
ENST00000561421.5:c.606+59T>C	ENSP00000453347.1:n.606+59T>C
NM_000137.2:c.606+59T>C	NP_000128.1:n.606+59T>C
XM_024449872.1:c.606+59T>C	XP_024305640.1:n.606+59T>C
NM_000137.4:c.606+59T>C MANE Select	NP_000128.1:n.606+59T>C
NM_001374377.1:c.606+59T>C	NP_001361306.1:n.606+59T>C
NM_001374380.1:c.606+59T>C	NP_001361309.1:n.606+59T>C