Canonical Allele Identifier: CA393619438

Gene: FAH

Linked Data

• COSMIC: COSM126679
• MyVariant Identifiers: chr15:g.80454649G>T (hg19) ; chr15:g.80162307G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80162307G>T , CM000677.2:g.80162307G>T	GRCh38
NC_000015.9:g.80454649G>T , CM000677.1:g.80454649G>T	GRCh37
NC_000015.8:g.78241704G>T	NCBI36
NG_012833.1:g.14309G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.426G>T	ENSP00000507680.1:p.Arg142Ser
ENST00000682012.1:n.501G>T
ENST00000683593.1:n.2089G>T
ENST00000684363.1:c.365-85G>T	ENSP00000507314.1:n.365-85G>T
ENST00000684569.1:n.471G>T
ENST00000561421.6:c.426G>T MANE Select	ENSP00000453347.2:p.Arg142Ser
ENST00000646551.1:n.1913G>T
ENST00000261755.9:c.426G>T	ENSP00000261755.5:p.Arg142Ser
ENST00000407106.5:c.426G>T	ENSP00000385080.1:p.Arg142Ser
ENST00000537726.5:n.572G>T
ENST00000539156.5:c.216G>T	ENSP00000454271.1:p.Arg72Ser
ENST00000558022.5:c.426G>T	ENSP00000453152.1:p.Arg142Ser
ENST00000558627.1:n.354G>T
ENST00000558767.5:n.687G>T
ENST00000561369.1:n.570G>T
ENST00000561421.5:c.426G>T	ENSP00000453347.1:p.Arg142Ser
NM_000137.2:c.426G>T	NP_000128.1:p.Arg142Ser
XM_024449872.1:c.426G>T	XP_024305640.1:p.Arg142Ser
NM_000137.4:c.426G>T MANE Select	NP_000128.1:p.Arg142Ser
NM_001374377.1:c.426G>T	NP_001361306.1:p.Arg142Ser
NM_001374380.1:c.426G>T	NP_001361309.1:p.Arg142Ser