Canonical Allele Identifier: CA274011128

Gene: FAH

Linked Data

• ClinVar Variation Id: 1082613
• ClinVar RCV Id: RCV001398999
• dbSNP Id: rs1051057226
• MyVariant Identifiers: chr15:g.80445426C>T (hg19) ; chr15:g.80153084C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80153084C>T , CM000677.2:g.80153084C>T	GRCh38
NC_000015.9:g.80445426C>T , CM000677.1:g.80445426C>T	GRCh37
NC_000015.8:g.78232481C>T	NCBI36
NG_012833.1:g.5086C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.30C>T	ENSP00000507680.1:p.Ser10=
ENST00000682012.1:n.105C>T
ENST00000684363.1:c.30C>T	ENSP00000507314.1:p.Ser10=
ENST00000684569.1:n.75C>T
ENST00000561421.6:c.30C>T MANE Select	ENSP00000453347.2:p.Ser10=
ENST00000261755.9:c.30C>T	ENSP00000261755.5:p.Ser10=
ENST00000407106.5:c.30C>T	ENSP00000385080.1:p.Ser10=
ENST00000537726.5:n.112C>T
ENST00000558022.5:c.30C>T	ENSP00000453152.1:p.Ser10=
ENST00000558767.5:n.291C>T
ENST00000561369.1:n.110C>T
ENST00000561421.5:c.30C>T	ENSP00000453347.1:p.Ser10=
NM_000137.2:c.30C>T	NP_000128.1:p.Ser10=
XM_024449872.1:c.30C>T	XP_024305640.1:p.Ser10=
NM_000137.4:c.30C>T MANE Select	NP_000128.1:p.Ser10=
NM_001374377.1:c.30C>T	NP_001361306.1:p.Ser10=
NM_001374380.1:c.30C>T	NP_001361309.1:p.Ser10=