Canonical Allele Identifier: CA10625098

Gene: ARSB

Linked Data

• ClinVar Variation Id: 354319
• ClinVar RCV Id: RCV000299847 ; RCV001561230
• dbSNP Id: rs180784385
• gnomAD v2: 5-78281317-G-A
• gnomAD v3: 5-78985494-G-A
• gnomAD v4: 5-78985494-G-A
• MyVariant Identifiers: chr5:g.78281317G>A (hg19) ; chr5:g.78985494G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78985494G>A , CM000667.2:g.78985494G>A	GRCh38
NC_000005.9:g.78281317G>A , CM000667.1:g.78281317G>A	GRCh37
NC_000005.8:g.78317073G>A	NCBI36
NG_007089.1:g.6041C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264914.8:c.-246C>T	ENSP00000264914.4:n.-246C>T
ENST00000396151.7:c.-246C>T	ENSP00000379455.3:n.-246C>T
ENST00000521117.1:c.-246C>T	ENSP00000428611.1:n.-246C>T
ENST00000565165.1:c.-246C>T	ENSP00000456339.1:n.-246C>T
NM_000046.3:c.-246C>T	NP_000037.2:n.-246C>T
NM_198709.2:c.-246C>T	NP_942002.1:n.-246C>T
XM_011543390.1:c.-246C>T	XP_011541692.1:n.-246C>T
NM_000046.4:c.-246C>T	NP_000037.2:n.-246C>T
NM_198709.3:c.-246C>T	NP_942002.1:n.-246C>T