Canonical Allele Identifier: CA716107493

Gene: FAH

Linked Data

• dbSNP Id: rs1208989569
• MyVariant Identifiers: chr15:g.80460852_80460853del (hg19) ; chr15:g.80168510_80168511del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168512_80168513del , CM000677.2:g.80168512_80168513del	GRCh38
NC_000015.9:g.80460854_80460855del , CM000677.1:g.80460854_80460855del	GRCh37
NC_000015.8:g.78247909_78247910del	NCBI36
NG_012833.1:g.20514_20515del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.795+196_795+197del
ENST00000684569.1:n.651+196_651+197del
ENST00000561421.6:c.606+196_606+197del MANE Select	ENSP00000453347.2:n.606+196_606+197del
ENST00000646551.1:n.2233+196_2233+197del
ENST00000261755.9:c.606+196_606+197del	ENSP00000261755.5:n.606+196_606+197del
ENST00000407106.5:c.606+196_606+197del	ENSP00000385080.1:n.606+196_606+197del
ENST00000539156.5:c.396+196_396+197del	ENSP00000454271.1:n.396+196_396+197del
ENST00000558627.1:n.534+196_534+197del
ENST00000561421.5:c.606+196_606+197del	ENSP00000453347.1:n.606+196_606+197del
NM_000137.2:c.606+196_606+197del	NP_000128.1:n.606+196_606+197del
XM_024449872.1:c.606+196_606+197del	XP_024305640.1:n.606+196_606+197del
NM_000137.4:c.606+196_606+197del MANE Select	NP_000128.1:n.606+196_606+197del
NM_001374377.1:c.606+196_606+197del	NP_001361306.1:n.606+196_606+197del
NM_001374380.1:c.606+196_606+197del	NP_001361309.1:n.606+196_606+197del