Canonical Allele Identifier: CA393618744

Gene: FAH

Linked Data

• dbSNP Id: rs2041131836
• gnomAD v4: 15-80159775-T-C
• MyVariant Identifiers: chr15:g.80452117T>C (hg19) ; chr15:g.80159775T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80159775T>C , CM000677.2:g.80159775T>C	GRCh38
NC_000015.9:g.80452117T>C , CM000677.1:g.80452117T>C	GRCh37
NC_000015.8:g.78239172T>C	NCBI36
NG_012833.1:g.11777T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.212T>C	ENSP00000507680.1:p.Met71Thr
ENST00000682012.1:n.287T>C
ENST00000683593.1:n.89T>C
ENST00000684363.1:c.212T>C	ENSP00000507314.1:p.Met71Thr
ENST00000684569.1:n.257T>C
ENST00000561421.6:c.212T>C MANE Select	ENSP00000453347.2:p.Met71Thr
ENST00000646551.1:n.1699T>C
ENST00000261755.9:c.212T>C	ENSP00000261755.5:p.Met71Thr
ENST00000407106.5:c.212T>C	ENSP00000385080.1:p.Met71Thr
ENST00000537726.5:n.294T>C
ENST00000539156.5:c.2T>C	ENSP00000454271.1:p.Met1Thr
ENST00000558022.5:c.212T>C	ENSP00000453152.1:p.Met71Thr
ENST00000558767.5:n.473T>C
ENST00000561369.1:n.292T>C
ENST00000561421.5:c.212T>C	ENSP00000453347.1:p.Met71Thr
NM_000137.2:c.212T>C	NP_000128.1:p.Met71Thr
XM_024449872.1:c.212T>C	XP_024305640.1:p.Met71Thr
NM_000137.4:c.212T>C MANE Select	NP_000128.1:p.Met71Thr
NM_001374377.1:c.212T>C	NP_001361306.1:p.Met71Thr
NM_001374380.1:c.212T>C	NP_001361309.1:p.Met71Thr