Canonical Allele Identifier: CA360338984
Gene: ARSB HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.78076326A>G (hg19) chr5:g.78780503A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.78780503A>G , CM000667.2:g.78780503A>G GRCh38
NC_000005.9:g.78076326A>G , CM000667.1:g.78076326A>G GRCh37
NC_000005.8:g.78112082A>G NCBI36
NG_007089.1:g.211032T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264914.10:c.1496T>C MANE Select ENSP00000264914.4:p.Leu499Pro
ENST00000264914.8:c.1496T>C ENSP00000264914.4:p.Leu499Pro
ENST00000521011.1:n.461T>C
NM_000046.3:c.1496T>C NP_000037.2:p.Leu499Pro
XM_011543390.1:c.1496T>C XP_011541692.1:p.Leu499Pro
NM_000046.4:c.1496T>C NP_000037.2:p.Leu499Pro
NM_000046.5:c.1496T>C MANE Select NP_000037.2:p.Leu499Pro
Search 100 bp 5'
Search 100 bp 3'