Canonical Allele Identifier: CA16041760
Gene: FAH HGNC NCBI

Linked Data

ClinVar Variation Id: 371348
ClinVar RCV Id: RCV000409775
dbSNP Id: rs1057517201
MyVariant Identifiers: chr15:g.80469926G>A (hg19) chr15:g.80177584G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80177584G>A , CM000677.2:g.80177584G>A GRCh38
NC_000015.9:g.80469926G>A , CM000677.1:g.80469926G>A GRCh37
NC_000015.8:g.78256981G>A NCBI36
NG_012833.1:g.29586G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682012.1:n.1049+1G>A
ENST00000561421.6:c.960+1G>A MANE Select ENSP00000453347.2:n.960+1G>A
ENST00000646551.1:n.2574+1G>A
ENST00000261755.9:c.960+1G>A ENSP00000261755.5:n.960+1G>A
ENST00000407106.5:c.960+1G>A ENSP00000385080.1:n.960+1G>A
ENST00000539156.5:c.750+1G>A ENSP00000454271.1:n.750+1G>A
ENST00000559217.1:n.177+1G>A
ENST00000561353.2:c.58+1G>A
ENST00000561421.5:c.960+1G>A ENSP00000453347.1:n.960+1G>A
NM_000137.2:c.960+1G>A NP_000128.1:n.960+1G>A
XM_024449872.1:c.960+1G>A XP_024305640.1:n.960+1G>A
NM_000137.4:c.960+1G>A MANE Select NP_000128.1:n.960+1G>A
NM_001374377.1:c.960+1G>A NP_001361306.1:n.960+1G>A
NM_001374380.1:c.960+1G>A NP_001361309.1:n.960+1G>A
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