Canonical Allele Identifier: CA360343322

Gene: ARSB

Linked Data

• ClinVar Variation Id: 2806200
• ClinVar RCV Id: RCV003601462
• MyVariant Identifiers: chr5:g.78181587A>T (hg19) ; chr5:g.78885764A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78885764A>T , CM000667.2:g.78885764A>T	GRCh38
NC_000005.9:g.78181587A>T , CM000667.1:g.78181587A>T	GRCh37
NC_000005.8:g.78217343A>T	NCBI36
NG_007089.1:g.105771T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264914.10:c.962T>A MANE Select	ENSP00000264914.4:p.Leu321Gln
ENST00000521800.2:n.144T>A
ENST00000565165.2:c.962T>A	ENSP00000456339.2:p.Leu321Gln
ENST00000264914.8:c.962T>A	ENSP00000264914.4:p.Leu321Gln
ENST00000396151.7:c.962T>A	ENSP00000379455.3:p.Leu321Gln
ENST00000521800.1:n.67T>A
ENST00000565165.1:c.962T>A	ENSP00000456339.1:p.Leu321Gln
NM_000046.3:c.962T>A	NP_000037.2:p.Leu321Gln
NM_198709.2:c.962T>A	NP_942002.1:p.Leu321Gln
XM_005248506.3:c.962T>A	XP_005248563.1:p.Leu321Gln
XM_011543390.1:c.962T>A	XP_011541692.1:p.Leu321Gln
XM_011543391.1:c.962T>A	XP_011541693.1:p.Leu321Gln
XM_011543392.1:c.962T>A	XP_011541694.1:p.Leu321Gln
XM_011543393.1:c.962T>A	XP_011541695.1:p.Leu321Gln
NM_000046.4:c.962T>A	NP_000037.2:p.Leu321Gln
XM_011543391.3:c.962T>A	XP_011541693.1:p.Leu321Gln
XM_011543392.3:c.962T>A	XP_011541694.1:p.Leu321Gln
XM_011543393.2:c.962T>A	XP_011541695.1:p.Leu321Gln
XM_017009471.2:c.962T>A	XP_016864960.1:p.Leu321Gln
XR_001742065.2:n.1033T>A
XR_001742066.2:n.1033T>A
NM_000046.5:c.962T>A MANE Select	NP_000037.2:p.Leu321Gln
NM_198709.3:c.962T>A	NP_942002.1:p.Leu321Gln