Canonical Allele Identifier: CA2573139971

Gene: ARSB

Linked Data

• ClinVar Variation Id: 1413632
• ClinVar RCV Id: RCV001945069

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78964573_78964574delinsCA , CM000667.2:g.78964573_78964574delinsCA	GRCh38
NC_000005.9:g.78260396_78260397delinsCA , CM000667.1:g.78260396_78260397delinsCA	GRCh37
NC_000005.8:g.78296152_78296153delinsCA	NCBI36
NG_007089.1:g.26961_26962delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264914.10:c.532_533delinsTG MANE Select	ENSP00000264914.4:p.His178Cys
ENST00000565165.2:c.532_533delinsTG	ENSP00000456339.2:p.His178Cys
ENST00000264914.8:c.532_533delinsTG	ENSP00000264914.4:p.His178Cys
ENST00000396151.7:c.532_533delinsTG	ENSP00000379455.3:p.His178Cys
ENST00000565165.1:c.532_533delinsTG	ENSP00000456339.1:p.His178Cys
NM_000046.3:c.532_533delinsTG	NP_000037.2:p.His178Cys
NM_198709.2:c.532_533delinsTG	NP_942002.1:p.His178Cys
XM_005248506.3:c.532_533delinsTG	XP_005248563.1:p.His178Cys
XM_006714615.2:c.532_533delinsTG	XP_006714678.1:p.His178Cys
XM_011543390.1:c.532_533delinsTG	XP_011541692.1:p.His178Cys
XM_011543391.1:c.532_533delinsTG	XP_011541693.1:p.His178Cys
XM_011543392.1:c.532_533delinsTG	XP_011541694.1:p.His178Cys
XM_011543393.1:c.532_533delinsTG	XP_011541695.1:p.His178Cys
NM_000046.4:c.532_533delinsTG	NP_000037.2:p.His178Cys
XM_011543391.3:c.532_533delinsTG	XP_011541693.1:p.His178Cys
XM_011543392.3:c.532_533delinsTG	XP_011541694.1:p.His178Cys
XM_011543393.2:c.532_533delinsTG	XP_011541695.1:p.His178Cys
XM_017009471.2:c.532_533delinsTG	XP_016864960.1:p.His178Cys
XR_001742065.2:n.603_604delinsTG
XR_001742066.2:n.603_604delinsTG
NM_000046.5:c.532_533delinsTG MANE Select	NP_000037.2:p.His178Cys
NM_198709.3:c.532_533delinsTG	NP_942002.1:p.His178Cys