Canonical Allele Identifier: CA393621632

Gene: FAH

Linked Data

• ClinVar Variation Id: 1493931
• ClinVar RCV Id: RCV001986849
• dbSNP Id: rs2142105542
• MyVariant Identifiers: chr15:g.80469927T>C (hg19) ; chr15:g.80177585T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80177585T>C , CM000677.2:g.80177585T>C	GRCh38
NC_000015.9:g.80469927T>C , CM000677.1:g.80469927T>C	GRCh37
NC_000015.8:g.78256982T>C	NCBI36
NG_012833.1:g.29587T>C

Transcript Alleles

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