Canonical Allele Identifier: CA393615620

Gene: FAH

Linked Data

• dbSNP Id: rs2041065979
• gnomAD v4: 15-80153122-C-T
• MyVariant Identifiers: chr15:g.80445464C>T (hg19) ; chr15:g.80153122C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80153122C>T , CM000677.2:g.80153122C>T	GRCh38
NC_000015.9:g.80445464C>T , CM000677.1:g.80445464C>T	GRCh37
NC_000015.8:g.78232519C>T	NCBI36
NG_012833.1:g.5124C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.68C>T	ENSP00000507680.1:p.Ser23Leu
ENST00000682012.1:n.143C>T
ENST00000684363.1:c.68C>T	ENSP00000507314.1:p.Ser23Leu
ENST00000684569.1:n.113C>T
ENST00000561421.6:c.68C>T MANE Select	ENSP00000453347.2:p.Ser23Leu
ENST00000261755.9:c.68C>T	ENSP00000261755.5:p.Ser23Leu
ENST00000407106.5:c.68C>T	ENSP00000385080.1:p.Ser23Leu
ENST00000537726.5:n.150C>T
ENST00000558022.5:c.68C>T	ENSP00000453152.1:p.Ser23Leu
ENST00000558767.5:n.329C>T
ENST00000561369.1:n.148C>T
ENST00000561421.5:c.68C>T	ENSP00000453347.1:p.Ser23Leu
NM_000137.2:c.68C>T	NP_000128.1:p.Ser23Leu
XM_024449872.1:c.68C>T	XP_024305640.1:p.Ser23Leu
NM_000137.4:c.68C>T MANE Select	NP_000128.1:p.Ser23Leu
NM_001374377.1:c.68C>T	NP_001361306.1:p.Ser23Leu
NM_001374380.1:c.68C>T	NP_001361309.1:p.Ser23Leu