Canonical Allele Identifier: CA7691067
Gene: FAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1621414
ClinVar RCV Id: RCV002101693
dbSNP Id: rs763985544

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80159824C>T , CM000677.2:g.80159824C>T GRCh38
NC_000015.9:g.80452166C>T , CM000677.1:g.80452166C>T GRCh37
NC_000015.8:g.78239221C>T NCBI36
NG_012833.1:g.11826C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000558767.6:c.261C>T ENSP00000507680.1:p.Asn87=
ENST00000682012.1:n.336C>T
ENST00000683593.1:n.138C>T
ENST00000684363.1:c.261C>T ENSP00000507314.1:p.Asn87=
ENST00000684569.1:n.306C>T
ENST00000561421.6:c.261C>T MANE Select ENSP00000453347.2:p.Asn87=
ENST00000646551.1:n.1748C>T
ENST00000261755.9:c.261C>T ENSP00000261755.5:p.Asn87=
ENST00000407106.5:c.261C>T ENSP00000385080.1:p.Asn87=
ENST00000537726.5:n.343C>T
ENST00000539156.5:c.51C>T ENSP00000454271.1:p.Asn17=
ENST00000558022.5:c.261C>T ENSP00000453152.1:p.Asn87=
ENST00000558767.5:n.522C>T
ENST00000561369.1:n.341C>T
ENST00000561421.5:c.261C>T ENSP00000453347.1:p.Asn87=
NM_000137.2:c.261C>T NP_000128.1:p.Asn87=
XM_024449872.1:c.261C>T XP_024305640.1:p.Asn87=
NM_000137.4:c.261C>T MANE Select NP_000128.1:p.Asn87=
NM_001374377.1:c.261C>T NP_001361306.1:p.Asn87=
NM_001374380.1:c.261C>T NP_001361309.1:p.Asn87=