Canonical Allele Identifier: CA360342758

Gene: ARSB

Linked Data

• MyVariant Identifiers: chr5:g.78181438G>C (hg19) ; chr5:g.78885615G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78885615G>C , CM000667.2:g.78885615G>C	GRCh38
NC_000005.9:g.78181438G>C , CM000667.1:g.78181438G>C	GRCh37
NC_000005.8:g.78217194G>C	NCBI36
NG_007089.1:g.105920C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264914.10:c.1111C>G MANE Select	ENSP00000264914.4:p.Leu371Val
ENST00000521800.2:n.293C>G
ENST00000565165.2:c.1111C>G	ENSP00000456339.2:p.Leu371Val
ENST00000264914.8:c.1111C>G	ENSP00000264914.4:p.Leu371Val
ENST00000396151.7:c.1111C>G	ENSP00000379455.3:p.Leu371Val
ENST00000521800.1:n.216C>G
ENST00000565165.1:c.1111C>G	ENSP00000456339.1:p.Leu371Val
NM_000046.3:c.1111C>G	NP_000037.2:p.Leu371Val
NM_198709.2:c.1111C>G	NP_942002.1:p.Leu371Val
XM_005248506.3:c.1111C>G	XP_005248563.1:p.Leu371Val
XM_011543390.1:c.1111C>G	XP_011541692.1:p.Leu371Val
XM_011543391.1:c.1111C>G	XP_011541693.1:p.Leu371Val
XM_011543392.1:c.1111C>G	XP_011541694.1:p.Leu371Val
XM_011543393.1:c.1111C>G	XP_011541695.1:p.Leu371Val
NM_000046.4:c.1111C>G	NP_000037.2:p.Leu371Val
XM_011543391.3:c.1111C>G	XP_011541693.1:p.Leu371Val
XM_011543392.3:c.1111C>G	XP_011541694.1:p.Leu371Val
XM_011543393.2:c.1111C>G	XP_011541695.1:p.Leu371Val
XM_017009471.2:c.1111C>G	XP_016864960.1:p.Leu371Val
XR_001742065.2:n.1182C>G
XR_001742066.2:n.1182C>G
NM_000046.5:c.1111C>G MANE Select	NP_000037.2:p.Leu371Val
NM_198709.3:c.1111C>G	NP_942002.1:p.Leu371Val