Canonical Allele Identifier: CA393619384

Gene: FAH

Linked Data

• MyVariant Identifiers: chr15:g.80454623G>C (hg19) ; chr15:g.80162281G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80162281G>C , CM000677.2:g.80162281G>C	GRCh38
NC_000015.9:g.80454623G>C , CM000677.1:g.80454623G>C	GRCh37
NC_000015.8:g.78241678G>C	NCBI36
NG_012833.1:g.14283G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.400G>C	ENSP00000507680.1:p.Ala134Pro
ENST00000682012.1:n.475G>C
ENST00000683593.1:n.2063G>C
ENST00000684363.1:c.365-111G>C	ENSP00000507314.1:n.365-111G>C
ENST00000684569.1:n.445G>C
ENST00000561421.6:c.400G>C MANE Select	ENSP00000453347.2:p.Ala134Pro
ENST00000646551.1:n.1887G>C
ENST00000261755.9:c.400G>C	ENSP00000261755.5:p.Ala134Pro
ENST00000407106.5:c.400G>C	ENSP00000385080.1:p.Ala134Pro
ENST00000537726.5:n.546G>C
ENST00000539156.5:c.190G>C	ENSP00000454271.1:p.Ala64Pro
ENST00000558022.5:c.400G>C	ENSP00000453152.1:p.Ala134Pro
ENST00000558627.1:n.328G>C
ENST00000558767.5:n.661G>C
ENST00000561369.1:n.544G>C
ENST00000561421.5:c.400G>C	ENSP00000453347.1:p.Ala134Pro
NM_000137.2:c.400G>C	NP_000128.1:p.Ala134Pro
XM_024449872.1:c.400G>C	XP_024305640.1:p.Ala134Pro
NM_000137.4:c.400G>C MANE Select	NP_000128.1:p.Ala134Pro
NM_001374377.1:c.400G>C	NP_001361306.1:p.Ala134Pro
NM_001374380.1:c.400G>C	NP_001361309.1:p.Ala134Pro