Canonical Allele Identifier: CA360194025

Gene: ARSB

Linked Data

• ClinVar Variation Id: 1067555
• ClinVar RCV Id: RCV001378854
• dbSNP Id: rs1752333074
• gnomAD v4: 5-78969064-G-C
• MyVariant Identifiers: chr5:g.78264887G>C (hg19) ; chr5:g.78969064G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78969064G>C , CM000667.2:g.78969064G>C	GRCh38
NC_000005.9:g.78264887G>C , CM000667.1:g.78264887G>C	GRCh37
NC_000005.8:g.78300643G>C	NCBI36
NG_007089.1:g.22471C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264914.10:c.441C>G MANE Select	ENSP00000264914.4:p.His147Gln
ENST00000565165.2:c.441C>G	ENSP00000456339.2:p.His147Gln
ENST00000264914.8:c.441C>G	ENSP00000264914.4:p.His147Gln
ENST00000396151.7:c.441C>G	ENSP00000379455.3:p.His147Gln
ENST00000565165.1:c.441C>G	ENSP00000456339.1:p.His147Gln
NM_000046.3:c.441C>G	NP_000037.2:p.His147Gln
NM_198709.2:c.441C>G	NP_942002.1:p.His147Gln
XM_005248506.3:c.441C>G	XP_005248563.1:p.His147Gln
XM_006714615.2:c.441C>G	XP_006714678.1:p.His147Gln
XM_011543390.1:c.441C>G	XP_011541692.1:p.His147Gln
XM_011543391.1:c.441C>G	XP_011541693.1:p.His147Gln
XM_011543392.1:c.441C>G	XP_011541694.1:p.His147Gln
XM_011543393.1:c.441C>G	XP_011541695.1:p.His147Gln
NM_000046.4:c.441C>G	NP_000037.2:p.His147Gln
XM_011543391.3:c.441C>G	XP_011541693.1:p.His147Gln
XM_011543392.3:c.441C>G	XP_011541694.1:p.His147Gln
XM_011543393.2:c.441C>G	XP_011541695.1:p.His147Gln
XM_017009471.2:c.441C>G	XP_016864960.1:p.His147Gln
XR_001742065.2:n.512C>G
XR_001742066.2:n.512C>G
NM_000046.5:c.441C>G MANE Select	NP_000037.2:p.His147Gln
NM_198709.3:c.441C>G	NP_942002.1:p.His147Gln