Canonical Allele Identifier: CA7691272

Gene: FAH

Linked Data

• dbSNP Id: rs149220827
• ExAC: 15:80460707 A / C
• gnomAD v2: 15-80460707-A-C
• gnomAD v3: 15-80168365-A-C
• gnomAD v4: 15-80168365-A-C
• MyVariant Identifiers: chr15:g.80460707A>C (hg19) ; chr15:g.80168365A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168365A>C , CM000677.2:g.80168365A>C	GRCh38
NC_000015.9:g.80460707A>C , CM000677.1:g.80460707A>C	GRCh37
NC_000015.8:g.78247762A>C	NCBI36
NG_012833.1:g.20367A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.795+49A>C
ENST00000684569.1:n.651+49A>C
ENST00000561421.6:c.606+49A>C MANE Select	ENSP00000453347.2:n.606+49A>C
ENST00000646551.1:n.2233+49A>C
ENST00000261755.9:c.606+49A>C	ENSP00000261755.5:n.606+49A>C
ENST00000407106.5:c.606+49A>C	ENSP00000385080.1:n.606+49A>C
ENST00000539156.5:c.396+49A>C	ENSP00000454271.1:n.396+49A>C
ENST00000558514.1:n.201A>C
ENST00000558627.1:n.534+49A>C
ENST00000561421.5:c.606+49A>C	ENSP00000453347.1:n.606+49A>C
NM_000137.2:c.606+49A>C	NP_000128.1:n.606+49A>C
XM_024449872.1:c.606+49A>C	XP_024305640.1:n.606+49A>C
NM_000137.4:c.606+49A>C MANE Select	NP_000128.1:n.606+49A>C
NM_001374377.1:c.606+49A>C	NP_001361306.1:n.606+49A>C
NM_001374380.1:c.606+49A>C	NP_001361309.1:n.606+49A>C