Canonical Allele Identifier: CA2629878077

Gene: FAH

Linked Data

• gnomAD v4: 15-80162139-G-GTGTA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80162140_80162143dup , CM000677.2:g.80162140_80162143dup	GRCh38
NC_000015.9:g.80454482_80454485dup , CM000677.1:g.80454482_80454485dup	GRCh37
NC_000015.8:g.78241537_78241540dup	NCBI36
NG_012833.1:g.14142_14145dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.365-106_365-103dup	ENSP00000507680.1:n.365-106_365-103dup
ENST00000682012.1:n.440-106_440-103dup
ENST00000683593.1:n.1922_1925dup
ENST00000684363.1:c.365-252_365-249dup	ENSP00000507314.1:n.365-252_365-249dup
ENST00000684569.1:n.410-106_410-103dup
ENST00000561421.6:c.365-106_365-103dup MANE Select	ENSP00000453347.2:n.365-106_365-103dup
ENST00000646551.1:n.1852-106_1852-103dup
ENST00000261755.9:c.365-106_365-103dup	ENSP00000261755.5:n.365-106_365-103dup
ENST00000407106.5:c.365-106_365-103dup	ENSP00000385080.1:n.365-106_365-103dup
ENST00000537726.5:n.511-106_511-103dup
ENST00000539156.5:c.155-106_155-103dup	ENSP00000454271.1:n.155-106_155-103dup
ENST00000558022.5:c.365-106_365-103dup	ENSP00000453152.1:n.365-106_365-103dup
ENST00000558627.1:n.293-106_293-103dup
ENST00000558767.5:n.626-106_626-103dup
ENST00000561369.1:n.509-106_509-103dup
ENST00000561421.5:c.365-106_365-103dup	ENSP00000453347.1:n.365-106_365-103dup
NM_000137.2:c.365-106_365-103dup	NP_000128.1:n.365-106_365-103dup
XM_024449872.1:c.365-106_365-103dup	XP_024305640.1:n.365-106_365-103dup
NM_000137.4:c.365-106_365-103dup MANE Select	NP_000128.1:n.365-106_365-103dup
NM_001374377.1:c.365-106_365-103dup	NP_001361306.1:n.365-106_365-103dup
NM_001374380.1:c.365-106_365-103dup	NP_001361309.1:n.365-106_365-103dup