Canonical Allele Identifier: CA393619998

Gene: FAH

Linked Data

• dbSNP Id: rs145389125
• gnomAD v2: 15-80460617-G-T
• gnomAD v4: 15-80168275-G-T
• MyVariant Identifiers: chr15:g.80460617G>T (hg19) ; chr15:g.80168275G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168275G>T , CM000677.2:g.80168275G>T	GRCh38
NC_000015.9:g.80460617G>T , CM000677.1:g.80460617G>T	GRCh37
NC_000015.8:g.78247672G>T	NCBI36
NG_012833.1:g.20277G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.754G>T
ENST00000684569.1:n.610G>T
ENST00000561421.6:c.565G>T MANE Select	ENSP00000453347.2:p.Val189Leu
ENST00000646551.1:n.2192G>T
ENST00000261755.9:c.565G>T	ENSP00000261755.5:p.Val189Leu
ENST00000407106.5:c.565G>T	ENSP00000385080.1:p.Val189Leu
ENST00000539156.5:c.355G>T	ENSP00000454271.1:p.Val119Leu
ENST00000558514.1:n.111G>T
ENST00000558627.1:n.493G>T
ENST00000561421.5:c.565G>T	ENSP00000453347.1:p.Val189Leu
NM_000137.2:c.565G>T	NP_000128.1:p.Val189Leu
XM_024449872.1:c.565G>T	XP_024305640.1:p.Val189Leu
NM_000137.4:c.565G>T MANE Select	NP_000128.1:p.Val189Leu
NM_001374377.1:c.565G>T	NP_001361306.1:p.Val189Leu
NM_001374380.1:c.565G>T	NP_001361309.1:p.Val189Leu