Canonical Allele Identifier: CA393619142

Gene: FAH

Linked Data

• ClinVar Variation Id: 2675351
• ClinVar RCV Id: RCV003460102
• dbSNP Id: rs11555097
• gnomAD v2: 15-80452206-G-T
• gnomAD v4: 15-80159864-G-T
• MyVariant Identifiers: chr15:g.80452206G>T (hg19) ; chr15:g.80159864G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80159864G>T , CM000677.2:g.80159864G>T	GRCh38
NC_000015.9:g.80452206G>T , CM000677.1:g.80452206G>T	GRCh37
NC_000015.8:g.78239261G>T	NCBI36
NG_012833.1:g.11866G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.301G>T	ENSP00000507680.1:p.Glu101Ter
ENST00000682012.1:n.376G>T
ENST00000683593.1:n.178G>T
ENST00000684363.1:c.301G>T	ENSP00000507314.1:p.Glu101Ter
ENST00000684569.1:n.346G>T
ENST00000561421.6:c.301G>T MANE Select	ENSP00000453347.2:p.Glu101Ter
ENST00000646551.1:n.1788G>T
ENST00000261755.9:c.301G>T	ENSP00000261755.5:p.Glu101Ter
ENST00000407106.5:c.301G>T	ENSP00000385080.1:p.Glu101Ter
ENST00000537726.5:n.383G>T
ENST00000539156.5:c.91G>T	ENSP00000454271.1:p.Glu31Ter
ENST00000558022.5:c.301G>T	ENSP00000453152.1:p.Glu101Ter
ENST00000558767.5:n.562G>T
ENST00000561369.1:n.381G>T
ENST00000561421.5:c.301G>T	ENSP00000453347.1:p.Glu101Ter
NM_000137.2:c.301G>T	NP_000128.1:p.Glu101Ter
XM_024449872.1:c.301G>T	XP_024305640.1:p.Glu101Ter
NM_000137.4:c.301G>T MANE Select	NP_000128.1:p.Glu101Ter
NM_001374377.1:c.301G>T	NP_001361306.1:p.Glu101Ter
NM_001374380.1:c.301G>T	NP_001361309.1:p.Glu101Ter