Canonical Allele Identifier: CA445400344
Gene: ARSB HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.78076301T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.78780478T>C , CM000667.2:g.78780478T>C GRCh38
NC_000005.9:g.78076301T>C , CM000667.1:g.78076301T>C GRCh37
NC_000005.8:g.78112057T>C NCBI36
NG_007089.1:g.211057A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264914.10:c.1521A>G MANE Select ENSP00000264914.4:p.Lys507=
ENST00000264914.8:c.1521A>G ENSP00000264914.4:p.Lys507=
ENST00000521011.1:n.486A>G
NM_000046.3:c.1521A>G NP_000037.2:p.Lys507=
XM_011543390.1:c.1521A>G XP_011541692.1:p.Lys507=
NM_000046.4:c.1521A>G NP_000037.2:p.Lys507=
NM_000046.5:c.1521A>G MANE Select NP_000037.2:p.Lys507=
Search 100 bp 5'
Search 100 bp 3'