Canonical Allele Identifier: CA404295260

Gene: FARSA

Linked Data

• ClinVar Variation Id: 2483605
• ClinVar RCV Id: RCV004278670
• dbSNP Id: rs1971419959
• MyVariant Identifiers: chr19:g.13044446T>G (hg19) ; chr19:g.12933632T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12933632T>G , CM000681.2:g.12933632T>G	GRCh38
NC_000019.9:g.13044446T>G , CM000681.1:g.13044446T>G	GRCh37
NC_000019.8:g.12905446T>G	NCBI36
NG_029662.1:g.33T>G , LRG_828:g.33T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314606.9:c.65A>C MANE Select	ENSP00000320309.3:p.Asp22Ala
ENST00000314606.8:c.65A>C	ENSP00000320309.3:p.Asp22Ala
ENST00000423140.6:c.65A>C	ENSP00000396548.2:p.Asp22Ala
ENST00000586146.5:c.65A>C	ENSP00000468068.1:p.Asp22Ala
ENST00000586280.1:n.11A>C
ENST00000587981.1:c.65A>C	ENSP00000465402.1:p.Asp22Ala
ENST00000588025.5:c.185A>C	ENSP00000468051.1:p.Asp62Ala
ENST00000588965.5:n.65A>C
ENST00000592662.5:n.67A>C
ENST00000593021.1:c.49A>C
NM_004461.2:c.65A>C	NP_004452.1:p.Asp22Ala
XM_024451419.1:c.65A>C	XP_024307187.1:p.Asp22Ala
NM_004461.3:c.65A>C MANE Select	NP_004452.1:p.Asp22Ala