Canonical Allele Identifier: CA814297485

Gene: ARSB

Linked Data

• dbSNP Id: rs1328147746
• gnomAD v3: 5-78969220-A-AT
• gnomAD v4: 5-78969220-A-AT
• MyVariant Identifiers: chr5:g.78265043_78265044insT (hg19) ; chr5:g.78969220_78969221insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78969222dup , CM000667.2:g.78969222dup	GRCh38
NC_000005.9:g.78265045dup , CM000667.1:g.78265045dup	GRCh37
NC_000005.8:g.78300801dup	NCBI36
NG_007089.1:g.22314dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264914.10:c.313-29dup MANE Select	ENSP00000264914.4:n.313-29dup
ENST00000565165.2:c.313-29dup	ENSP00000456339.2:n.313-29dup
ENST00000264914.8:c.313-29dup	ENSP00000264914.4:n.313-29dup
ENST00000396151.7:c.313-29dup	ENSP00000379455.3:n.313-29dup
ENST00000565165.1:c.313-29dup	ENSP00000456339.1:n.313-29dup
NM_000046.3:c.313-29dup	NP_000037.2:n.313-29dup
NM_198709.2:c.313-29dup	NP_942002.1:n.313-29dup
XM_005248506.3:c.313-29dup	XP_005248563.1:n.313-29dup
XM_006714615.2:c.313-29dup	XP_006714678.1:n.313-29dup
XM_011543390.1:c.313-29dup	XP_011541692.1:n.313-29dup
XM_011543391.1:c.313-29dup	XP_011541693.1:n.313-29dup
XM_011543392.1:c.313-29dup	XP_011541694.1:n.313-29dup
XM_011543393.1:c.313-29dup	XP_011541695.1:n.313-29dup
NM_000046.4:c.313-29dup	NP_000037.2:n.313-29dup
XM_011543391.3:c.313-29dup	XP_011541693.1:n.313-29dup
XM_011543392.3:c.313-29dup	XP_011541694.1:n.313-29dup
XM_011543393.2:c.313-29dup	XP_011541695.1:n.313-29dup
XM_017009471.2:c.313-29dup	XP_016864960.1:n.313-29dup
XR_001742065.2:n.384-29dup
XR_001742066.2:n.384-29dup
NM_000046.5:c.313-29dup MANE Select	NP_000037.2:n.313-29dup
NM_198709.3:c.313-29dup	NP_942002.1:n.313-29dup