Canonical Allele Identifier: CA619266191

Gene: FAH

Linked Data

• dbSNP Id: rs1418569581
• gnomAD v2: 15-80445331-G-T
• gnomAD v3: 15-80152989-G-T
• gnomAD v4: 15-80152989-G-T
• MyVariant Identifiers: chr15:g.80445331G>T (hg19) ; chr15:g.80152989G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152989G>T , CM000677.2:g.80152989G>T	GRCh38
NC_000015.9:g.80445331G>T , CM000677.1:g.80445331G>T	GRCh37
NC_000015.8:g.78232386G>T	NCBI36
NG_012833.1:g.4991G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000558767.6:c.-66G>T	ENSP00000507680.1:n.-66G>T
ENST00000682012.1:n.10G>T
ENST00000261755.9:c.-29-37G>T	ENSP00000261755.5:n.-29-37G>T
ENST00000407106.5:c.-29-37G>T	ENSP00000385080.1:n.-29-37G>T
ENST00000537726.5:n.54-37G>T
ENST00000558022.5:c.-29-37G>T	ENSP00000453152.1:n.-29-37G>T
ENST00000558767.5:n.196G>T
ENST00000561369.1:n.52-37G>T
ENST00000561421.5:c.-66G>T	ENSP00000453347.1:n.-66G>T
NM_000137.2:c.-66G>T	NP_000128.1:n.-66G>T
XM_024449872.1:c.-29-37G>T	XP_024305640.1:n.-29-37G>T
NM_001374377.1:c.-29-37G>T	NP_001361306.1:n.-29-37G>T
NM_001374380.1:c.-29-37G>T	NP_001361309.1:n.-29-37G>T