Canonical Allele Identifier: CA445400293
Gene: ARSB HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.78076277A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.78780454A>G , CM000667.2:g.78780454A>G GRCh38
NC_000005.9:g.78076277A>G , CM000667.1:g.78076277A>G GRCh37
NC_000005.8:g.78112033A>G NCBI36
NG_007089.1:g.211081T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264914.10:c.1545T>C MANE Select ENSP00000264914.4:p.Pro515=
ENST00000264914.8:c.1545T>C ENSP00000264914.4:p.Pro515=
ENST00000521011.1:n.510T>C
NM_000046.3:c.1545T>C NP_000037.2:p.Pro515=
XM_011543390.1:c.1545T>C XP_011541692.1:p.Pro515=
NM_000046.4:c.1545T>C NP_000037.2:p.Pro515=
NM_000046.5:c.1545T>C MANE Select NP_000037.2:p.Pro515=
Search 100 bp 5'
Search 100 bp 3'