Canonical Allele Identifier: CA274019080

Gene: FAH

Linked Data

• ClinVar Variation Id: 2738968
• ClinVar RCV Id: RCV003516634
• dbSNP Id: rs929155893
• gnomAD v4: 15-80159895-A-T
• MyVariant Identifiers: chr15:g.80452237A>T (hg19) ; chr15:g.80159895A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80159895A>T , CM000677.2:g.80159895A>T	GRCh38
NC_000015.9:g.80452237A>T , CM000677.1:g.80452237A>T	GRCh37
NC_000015.8:g.78239292A>T	NCBI36
NG_012833.1:g.11897A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000558767.6:c.314+18A>T	ENSP00000507680.1:n.314+18A>T
ENST00000682012.1:n.389+18A>T
ENST00000683593.1:n.191+18A>T
ENST00000684363.1:c.314+18A>T	ENSP00000507314.1:n.314+18A>T
ENST00000684569.1:n.359+18A>T
ENST00000561421.6:c.314+18A>T MANE Select	ENSP00000453347.2:n.314+18A>T
ENST00000646551.1:n.1801+18A>T
ENST00000261755.9:c.314+18A>T	ENSP00000261755.5:n.314+18A>T
ENST00000407106.5:c.314+18A>T	ENSP00000385080.1:n.314+18A>T
ENST00000537726.5:n.396+18A>T
ENST00000539156.5:c.104+18A>T	ENSP00000454271.1:n.104+18A>T
ENST00000558022.5:c.314+18A>T	ENSP00000453152.1:n.314+18A>T
ENST00000558767.5:n.575+18A>T
ENST00000561369.1:n.394+18A>T
ENST00000561421.5:c.314+18A>T	ENSP00000453347.1:n.314+18A>T
NM_000137.2:c.314+18A>T	NP_000128.1:n.314+18A>T
XM_024449872.1:c.314+18A>T	XP_024305640.1:n.314+18A>T
NM_000137.4:c.314+18A>T MANE Select	NP_000128.1:n.314+18A>T
NM_001374377.1:c.314+18A>T	NP_001361306.1:n.314+18A>T
NM_001374380.1:c.314+18A>T	NP_001361309.1:n.314+18A>T