Canonical Allele Identifier: CA2190327370

Gene: FAH

Linked Data

• dbSNP Id: rs2041061410
• gnomAD v4: 15-80152790-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152790C>T , CM000677.2:g.80152790C>T	GRCh38
NC_000015.9:g.80445132C>T , CM000677.1:g.80445132C>T	GRCh37
NC_000015.8:g.78232187C>T	NCBI36
NG_012833.1:g.4792C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407106.5:c.-145C>T	ENSP00000385080.1:n.-145C>T
ENST00000537726.5:n.2C>T
ENST00000558022.5:c.-29-236C>T	ENSP00000453152.1:n.-29-236C>T
NM_001374377.1:c.-145C>T	NP_001361306.1:n.-145C>T
NM_001374380.1:c.-81C>T	NP_001361309.1:n.-81C>T