Canonical Allele Identifier: CA16041761
Gene: FAH HGNC NCBI

Linked Data

ClinVar Variation Id: 370230
ClinVar RCV Id: RCV000411156
dbSNP Id: rs1057516333
MyVariant Identifiers: chr15:g.80478471G>A (hg19) chr15:g.80186129G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80186129G>A , CM000677.2:g.80186129G>A GRCh38
NC_000015.9:g.80478471G>A , CM000677.1:g.80478471G>A GRCh37
NC_000015.8:g.78265526G>A NCBI36
NG_012833.1:g.38131G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682012.1:n.1270-1G>A
ENST00000561421.6:c.1181-1G>A MANE Select ENSP00000453347.2:n.1181-1G>A
ENST00000646551.1:n.2795-1G>A
ENST00000261755.9:c.1181-1G>A ENSP00000261755.5:n.1181-1G>A
ENST00000407106.5:c.1181-1G>A ENSP00000385080.1:n.1181-1G>A
ENST00000539156.5:c.971-1G>A ENSP00000454271.1:n.971-1G>A
ENST00000559217.1:n.398-1G>A
ENST00000561421.5:c.1181-1G>A ENSP00000453347.1:n.1181-1G>A
NM_000137.2:c.1181-1G>A NP_000128.1:n.1181-1G>A
XM_024449872.1:c.1181-1G>A XP_024305640.1:n.1181-1G>A
NM_000137.4:c.1181-1G>A MANE Select NP_000128.1:n.1181-1G>A
NM_001374377.1:c.1181-1G>A NP_001361306.1:n.1181-1G>A
NM_001374380.1:c.1181-1G>A NP_001361309.1:n.1181-1G>A
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