Canonical Allele Identifier: CA491687996

Gene: FAH

Linked Data

• MyVariant Identifiers: chr15:g.80469919T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80177577T>C , CM000677.2:g.80177577T>C	GRCh38
NC_000015.9:g.80469919T>C , CM000677.1:g.80469919T>C	GRCh37
NC_000015.8:g.78256974T>C	NCBI36
NG_012833.1:g.29579T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.1043T>C
ENST00000561421.6:c.954T>C MANE Select	ENSP00000453347.2:p.Asn318=
ENST00000646551.1:n.2568T>C
ENST00000261755.9:c.954T>C	ENSP00000261755.5:p.Asn318=
ENST00000407106.5:c.954T>C	ENSP00000385080.1:p.Asn318=
ENST00000539156.5:c.744T>C	ENSP00000454271.1:p.Asn248=
ENST00000559217.1:n.171T>C
ENST00000561353.2:c.52T>C
ENST00000561421.5:c.954T>C	ENSP00000453347.1:p.Asn318=
NM_000137.2:c.954T>C	NP_000128.1:p.Asn318=
XM_024449872.1:c.954T>C	XP_024305640.1:p.Asn318=
NM_000137.4:c.954T>C MANE Select	NP_000128.1:p.Asn318=
NM_001374377.1:c.954T>C	NP_001361306.1:p.Asn318=
NM_001374380.1:c.954T>C	NP_001361309.1:p.Asn318=