Canonical Allele Identifier: CA393619997

Gene: FAH

Linked Data

• dbSNP Id: rs2041212611
• COSMIC: COSM3887574
• MyVariant Identifiers: chr15:g.80460615C>T (hg19) ; chr15:g.80168273C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168273C>T , CM000677.2:g.80168273C>T	GRCh38
NC_000015.9:g.80460615C>T , CM000677.1:g.80460615C>T	GRCh37
NC_000015.8:g.78247670C>T	NCBI36
NG_012833.1:g.20275C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682012.1:n.752C>T
ENST00000684569.1:n.608C>T
ENST00000561421.6:c.563C>T MANE Select	ENSP00000453347.2:p.Pro188Leu
ENST00000646551.1:n.2190C>T
ENST00000261755.9:c.563C>T	ENSP00000261755.5:p.Pro188Leu
ENST00000407106.5:c.563C>T	ENSP00000385080.1:p.Pro188Leu
ENST00000539156.5:c.353C>T	ENSP00000454271.1:p.Pro118Leu
ENST00000558514.1:n.109C>T
ENST00000558627.1:n.491C>T
ENST00000561421.5:c.563C>T	ENSP00000453347.1:p.Pro188Leu
NM_000137.2:c.563C>T	NP_000128.1:p.Pro188Leu
XM_024449872.1:c.563C>T	XP_024305640.1:p.Pro188Leu
NM_000137.4:c.563C>T MANE Select	NP_000128.1:p.Pro188Leu
NM_001374377.1:c.563C>T	NP_001361306.1:p.Pro188Leu
NM_001374380.1:c.563C>T	NP_001361309.1:p.Pro188Leu