Canonical Allele Identifier: CA3318198

Gene: ARSB

Linked Data

• ClinVar Variation Id: 254740
• ClinVar RCV Id: RCV000253620 ; RCV000675208 ; RCV000677585
• dbSNP Id: rs6870443
• ExAC: 5:78251347 A / G
• gnomAD v2: 5-78251347-A-G
• gnomAD v3: 5-78955524-A-G
• gnomAD v4: 5-78955524-A-G
• MyVariant Identifiers: chr5:g.78251347A>G (hg19) ; chr5:g.78955524A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78955524A>G , CM000667.2:g.78955524A>G	GRCh38
NC_000005.9:g.78251347A>G , CM000667.1:g.78251347A>G	GRCh37
NC_000005.8:g.78287103A>G	NCBI36
NG_007089.1:g.36011T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264914.10:c.691-22T>C MANE Select	ENSP00000264914.4:n.691-22T>C
ENST00000565165.2:c.691-22T>C	ENSP00000456339.2:n.691-22T>C
ENST00000264914.8:c.691-22T>C	ENSP00000264914.4:n.691-22T>C
ENST00000396151.7:c.691-22T>C	ENSP00000379455.3:n.691-22T>C
ENST00000565165.1:c.691-22T>C	ENSP00000456339.1:n.691-22T>C
NM_000046.3:c.691-22T>C	NP_000037.2:n.691-22T>C
NM_198709.2:c.691-22T>C	NP_942002.1:n.691-22T>C
XM_005248506.3:c.691-22T>C	XP_005248563.1:n.691-22T>C
XM_006714615.2:c.691-22T>C	XP_006714678.1:n.691-22T>C
XM_011543390.1:c.691-22T>C	XP_011541692.1:n.691-22T>C
XM_011543391.1:c.691-22T>C	XP_011541693.1:n.691-22T>C
XM_011543392.1:c.691-22T>C	XP_011541694.1:n.691-22T>C
XM_011543393.1:c.691-22T>C	XP_011541695.1:n.691-22T>C
NM_000046.4:c.691-22T>C	NP_000037.2:n.691-22T>C
XM_011543391.3:c.691-22T>C	XP_011541693.1:n.691-22T>C
XM_011543392.3:c.691-22T>C	XP_011541694.1:n.691-22T>C
XM_011543393.2:c.691-22T>C	XP_011541695.1:n.691-22T>C
XM_017009471.2:c.691-22T>C	XP_016864960.1:n.691-22T>C
XR_001742065.2:n.762-22T>C
XR_001742066.2:n.762-22T>C
NM_000046.5:c.691-22T>C MANE Select	NP_000037.2:n.691-22T>C
NM_198709.3:c.691-22T>C	NP_942002.1:n.691-22T>C