Canonical Allele Identifier: CA360193055

Gene: ARSB

Linked Data

• MyVariant Identifiers: chr5:g.78260265G>T (hg19) ; chr5:g.78964442G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78964442G>T , CM000667.2:g.78964442G>T	GRCh38
NC_000005.9:g.78260265G>T , CM000667.1:g.78260265G>T	GRCh37
NC_000005.8:g.78296021G>T	NCBI36
NG_007089.1:g.27093C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264914.10:c.664C>A MANE Select	ENSP00000264914.4:p.Leu222Ile
ENST00000565165.2:c.664C>A	ENSP00000456339.2:p.Leu222Ile
ENST00000264914.8:c.664C>A	ENSP00000264914.4:p.Leu222Ile
ENST00000396151.7:c.664C>A	ENSP00000379455.3:p.Leu222Ile
ENST00000565165.1:c.664C>A	ENSP00000456339.1:p.Leu222Ile
NM_000046.3:c.664C>A	NP_000037.2:p.Leu222Ile
NM_198709.2:c.664C>A	NP_942002.1:p.Leu222Ile
XM_005248506.3:c.664C>A	XP_005248563.1:p.Leu222Ile
XM_006714615.2:c.664C>A	XP_006714678.1:p.Leu222Ile
XM_011543390.1:c.664C>A	XP_011541692.1:p.Leu222Ile
XM_011543391.1:c.664C>A	XP_011541693.1:p.Leu222Ile
XM_011543392.1:c.664C>A	XP_011541694.1:p.Leu222Ile
XM_011543393.1:c.664C>A	XP_011541695.1:p.Leu222Ile
NM_000046.4:c.664C>A	NP_000037.2:p.Leu222Ile
XM_011543391.3:c.664C>A	XP_011541693.1:p.Leu222Ile
XM_011543392.3:c.664C>A	XP_011541694.1:p.Leu222Ile
XM_011543393.2:c.664C>A	XP_011541695.1:p.Leu222Ile
XM_017009471.2:c.664C>A	XP_016864960.1:p.Leu222Ile
XR_001742065.2:n.735C>A
XR_001742066.2:n.735C>A
NM_000046.5:c.664C>A MANE Select	NP_000037.2:p.Leu222Ile
NM_198709.3:c.664C>A	NP_942002.1:p.Leu222Ile