Canonical Allele Identifier: CA404284688

Gene: FARSA

Linked Data

• MyVariant Identifiers: chr19:g.13039229G>T (hg19) ; chr19:g.12928415G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12928415G>T , CM000681.2:g.12928415G>T	GRCh38
NC_000019.9:g.13039229G>T , CM000681.1:g.13039229G>T	GRCh37
NC_000019.8:g.12900229G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314606.9:c.768C>A MANE Select	ENSP00000320309.3:p.Phe256Leu
ENST00000314606.8:c.768C>A	ENSP00000320309.3:p.Phe256Leu
ENST00000423140.6:c.675C>A	ENSP00000396548.2:p.Phe225Leu
ENST00000586146.5:c.730C>A	ENSP00000468068.1:n.730C>A
ENST00000586280.1:n.798C>A
ENST00000587488.5:c.25C>A
ENST00000588025.5:c.888C>A	ENSP00000468051.1:p.Phe296Leu
ENST00000588965.5:n.768C>A
ENST00000592662.5:n.847C>A
ENST00000593021.1:c.515C>A
NM_004461.2:c.768C>A	NP_004452.1:p.Phe256Leu
XM_024451419.1:c.768C>A	XP_024307187.1:p.Phe256Leu
NM_004461.3:c.768C>A MANE Select	NP_004452.1:p.Phe256Leu