Canonical Allele Identifier: CA12055602

Gene: ARSB

Linked Data

• dbSNP Id: rs6453417
• gnomAD v2: 5-78110532-C-T
• gnomAD v3: 5-78814709-C-T
• gnomAD v4: 5-78814709-C-T
• MyVariant Identifiers: chr5:g.78110532C>T (hg19) ; chr5:g.78814709C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78814709C>T , CM000667.2:g.78814709C>T	GRCh38
NC_000005.9:g.78110532C>T , CM000667.1:g.78110532C>T	GRCh37
NC_000005.8:g.78146288C>T	NCBI36
NG_007089.1:g.176826G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264914.10:c.1213+24647G>A MANE Select	ENSP00000264914.4:n.1213+24647G>A
ENST00000264914.8:c.1213+24647G>A	ENSP00000264914.4:n.1213+24647G>A
NM_000046.3:c.1213+24647G>A	NP_000037.2:n.1213+24647G>A
XM_011543390.1:c.1213+24647G>A	XP_011541692.1:n.1213+24647G>A
NM_000046.4:c.1213+24647G>A	NP_000037.2:n.1213+24647G>A
XR_001742065.2:n.3302G>A
XR_001742066.2:n.1284+24647G>A
NM_000046.5:c.1213+24647G>A MANE Select	NP_000037.2:n.1213+24647G>A