Canonical Allele Identifier: CA393619909

Gene: FAH

Linked Data

• MyVariant Identifiers: chr15:g.80460469G>C (hg19) ; chr15:g.80168127G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168127G>C , CM000677.2:g.80168127G>C	GRCh38
NC_000015.9:g.80460469G>C , CM000677.1:g.80460469G>C	GRCh37
NC_000015.8:g.78247524G>C	NCBI36
NG_012833.1:g.20129G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.606G>C
ENST00000684569.1:n.576G>C
ENST00000561421.6:c.531G>C MANE Select	ENSP00000453347.2:p.Met177Ile
ENST00000646551.1:n.2158G>C
ENST00000261755.9:c.531G>C	ENSP00000261755.5:p.Met177Ile
ENST00000407106.5:c.531G>C	ENSP00000385080.1:p.Met177Ile
ENST00000539156.5:c.321G>C	ENSP00000454271.1:p.Met107Ile
ENST00000558514.1:n.77G>C
ENST00000558627.1:n.459G>C
ENST00000561421.5:c.531G>C	ENSP00000453347.1:p.Met177Ile
NM_000137.2:c.531G>C	NP_000128.1:p.Met177Ile
XM_024449872.1:c.531G>C	XP_024305640.1:p.Met177Ile
NM_000137.4:c.531G>C MANE Select	NP_000128.1:p.Met177Ile
NM_001374377.1:c.531G>C	NP_001361306.1:p.Met177Ile
NM_001374380.1:c.531G>C	NP_001361309.1:p.Met177Ile