Canonical Allele Identifier: CA445217053

Gene: ARSB

Linked Data

• ClinVar Variation Id: 797557
• ClinVar RCV Id: RCV001445824
• dbSNP Id: rs1580000383
• gnomAD v4: 5-78885727-T-C
• MyVariant Identifiers: chr5:g.78181550T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78885727T>C , CM000667.2:g.78885727T>C	GRCh38
NC_000005.9:g.78181550T>C , CM000667.1:g.78181550T>C	GRCh37
NC_000005.8:g.78217306T>C	NCBI36
NG_007089.1:g.105808A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264914.10:c.999A>G MANE Select	ENSP00000264914.4:p.Ala333=
ENST00000521800.2:n.181A>G
ENST00000565165.2:c.999A>G	ENSP00000456339.2:p.Ala333=
ENST00000264914.8:c.999A>G	ENSP00000264914.4:p.Ala333=
ENST00000396151.7:c.999A>G	ENSP00000379455.3:p.Ala333=
ENST00000521800.1:n.104A>G
ENST00000565165.1:c.999A>G	ENSP00000456339.1:p.Ala333=
NM_000046.3:c.999A>G	NP_000037.2:p.Ala333=
NM_198709.2:c.999A>G	NP_942002.1:p.Ala333=
XM_005248506.3:c.999A>G	XP_005248563.1:p.Ala333=
XM_011543390.1:c.999A>G	XP_011541692.1:p.Ala333=
XM_011543391.1:c.999A>G	XP_011541693.1:p.Ala333=
XM_011543392.1:c.999A>G	XP_011541694.1:p.Ala333=
XM_011543393.1:c.999A>G	XP_011541695.1:p.Ala333=
NM_000046.4:c.999A>G	NP_000037.2:p.Ala333=
XM_011543391.3:c.999A>G	XP_011541693.1:p.Ala333=
XM_011543392.3:c.999A>G	XP_011541694.1:p.Ala333=
XM_011543393.2:c.999A>G	XP_011541695.1:p.Ala333=
XM_017009471.2:c.999A>G	XP_016864960.1:p.Ala333=
XR_001742065.2:n.1070A>G
XR_001742066.2:n.1070A>G
NM_000046.5:c.999A>G MANE Select	NP_000037.2:p.Ala333=
NM_198709.3:c.999A>G	NP_942002.1:p.Ala333=