Canonical Allele Identifier: CA619269418

Gene: FAH

Linked Data

• dbSNP Id: rs1375261741
• gnomAD v2: 15-80464441-C-T
• gnomAD v4: 15-80172099-C-T
• MyVariant Identifiers: chr15:g.80464441C>T (hg19) ; chr15:g.80172099C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80172099C>T , CM000677.2:g.80172099C>T	GRCh38
NC_000015.9:g.80464441C>T , CM000677.1:g.80464441C>T	GRCh37
NC_000015.8:g.78251496C>T	NCBI36
NG_012833.1:g.24101C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682012.1:n.796-915C>T
ENST00000561421.6:c.607-50C>T MANE Select	ENSP00000453347.2:n.607-50C>T
ENST00000646551.1:n.2234-63C>T
ENST00000261755.9:c.607-50C>T	ENSP00000261755.5:n.607-50C>T
ENST00000407106.5:c.607-50C>T	ENSP00000385080.1:n.607-50C>T
ENST00000539156.5:c.397-50C>T	ENSP00000454271.1:n.397-50C>T
ENST00000558627.1:n.535-50C>T
ENST00000561421.5:c.607-50C>T	ENSP00000453347.1:n.607-50C>T
NM_000137.2:c.607-50C>T	NP_000128.1:n.607-50C>T
XM_024449872.1:c.607-50C>T	XP_024305640.1:n.607-50C>T
NM_000137.4:c.607-50C>T MANE Select	NP_000128.1:n.607-50C>T
NM_001374377.1:c.607-50C>T	NP_001361306.1:n.607-50C>T
NM_001374380.1:c.607-50C>T	NP_001361309.1:n.607-50C>T