Canonical Allele Identifier: CA393618774

Gene: FAH

Linked Data

• gnomAD v4: 15-80159781-T-C
• MyVariant Identifiers: chr15:g.80452123T>C (hg19) ; chr15:g.80159781T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80159781T>C , CM000677.2:g.80159781T>C	GRCh38
NC_000015.9:g.80452123T>C , CM000677.1:g.80452123T>C	GRCh37
NC_000015.8:g.78239178T>C	NCBI36
NG_012833.1:g.11783T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000558767.6:c.218T>C	ENSP00000507680.1:p.Leu73Pro
ENST00000682012.1:n.293T>C
ENST00000683593.1:n.95T>C
ENST00000684363.1:c.218T>C	ENSP00000507314.1:p.Leu73Pro
ENST00000684569.1:n.263T>C
ENST00000561421.6:c.218T>C MANE Select	ENSP00000453347.2:p.Leu73Pro
ENST00000646551.1:n.1705T>C
ENST00000261755.9:c.218T>C	ENSP00000261755.5:p.Leu73Pro
ENST00000407106.5:c.218T>C	ENSP00000385080.1:p.Leu73Pro
ENST00000537726.5:n.300T>C
ENST00000539156.5:c.8T>C	ENSP00000454271.1:p.Leu3Pro
ENST00000558022.5:c.218T>C	ENSP00000453152.1:p.Leu73Pro
ENST00000558767.5:n.479T>C
ENST00000561369.1:n.298T>C
ENST00000561421.5:c.218T>C	ENSP00000453347.1:p.Leu73Pro
NM_000137.2:c.218T>C	NP_000128.1:p.Leu73Pro
XM_024449872.1:c.218T>C	XP_024305640.1:p.Leu73Pro
NM_000137.4:c.218T>C MANE Select	NP_000128.1:p.Leu73Pro
NM_001374377.1:c.218T>C	NP_001361306.1:p.Leu73Pro
NM_001374380.1:c.218T>C	NP_001361309.1:p.Leu73Pro