Canonical Allele Identifier: CA360338897
Gene: ARSB HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.78076284T>A (hg19) chr5:g.78780461T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.78780461T>A , CM000667.2:g.78780461T>A GRCh38
NC_000005.9:g.78076284T>A , CM000667.1:g.78076284T>A GRCh37
NC_000005.8:g.78112040T>A NCBI36
NG_007089.1:g.211074A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264914.10:c.1538A>T MANE Select ENSP00000264914.4:p.Tyr513Phe
ENST00000264914.8:c.1538A>T ENSP00000264914.4:p.Tyr513Phe
ENST00000521011.1:n.503A>T
NM_000046.3:c.1538A>T NP_000037.2:p.Tyr513Phe
XM_011543390.1:c.1538A>T XP_011541692.1:p.Tyr513Phe
NM_000046.4:c.1538A>T NP_000037.2:p.Tyr513Phe
NM_000046.5:c.1538A>T MANE Select NP_000037.2:p.Tyr513Phe
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