Canonical Allele Identifier: CA716107167

Gene: FAH

Linked Data

• dbSNP Id: rs1317994625
• gnomAD v3: 15-80167964-CTT-C
• gnomAD v4: 15-80167964-CTT-C
• MyVariant Identifiers: chr15:g.80460307_80460308del (hg19) ; chr15:g.80167965_80167966del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80167966_80167967del , CM000677.2:g.80167966_80167967del	GRCh38
NC_000015.9:g.80460308_80460309del , CM000677.1:g.80460308_80460309del	GRCh37
NC_000015.8:g.78247363_78247364del	NCBI36
NG_012833.1:g.19968_19969del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.531-86_531-85del
ENST00000684569.1:n.501-86_501-85del
ENST00000561421.6:c.456-86_456-85del MANE Select	ENSP00000453347.2:n.456-86_456-85del
ENST00000646551.1:n.2083-86_2083-85del
ENST00000261755.9:c.456-86_456-85del	ENSP00000261755.5:n.456-86_456-85del
ENST00000407106.5:c.456-86_456-85del	ENSP00000385080.1:n.456-86_456-85del
ENST00000539156.5:c.246-86_246-85del	ENSP00000454271.1:n.246-86_246-85del
ENST00000558022.5:c.456-86_456-85del	ENSP00000453152.1:n.456-86_456-85del
ENST00000558627.1:n.384-86_384-85del
ENST00000561421.5:c.456-86_456-85del	ENSP00000453347.1:n.456-86_456-85del
NM_000137.2:c.456-86_456-85del	NP_000128.1:n.456-86_456-85del
XM_024449872.1:c.456-86_456-85del	XP_024305640.1:n.456-86_456-85del
NM_000137.4:c.456-86_456-85del MANE Select	NP_000128.1:n.456-86_456-85del
NM_001374377.1:c.456-86_456-85del	NP_001361306.1:n.456-86_456-85del
NM_001374380.1:c.456-86_456-85del	NP_001361309.1:n.456-86_456-85del