Canonical Allele Identifier: CA445400471
Gene: ARSB HGNC NCBI

Linked Data

dbSNP Id: rs1292005124
gnomAD v2: 5-78076363-G-A
gnomAD v3: 5-78780540-G-A
gnomAD v4: 5-78780540-G-A
MyVariant Identifiers: chr5:g.78076363G>A (hg19) chr5:g.78780540G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.78780540G>A , CM000667.2:g.78780540G>A GRCh38
NC_000005.9:g.78076363G>A , CM000667.1:g.78076363G>A GRCh37
NC_000005.8:g.78112119G>A NCBI36
NG_007089.1:g.210995C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264914.10:c.1459C>T MANE Select ENSP00000264914.4:p.Leu487=
ENST00000264914.8:c.1459C>T ENSP00000264914.4:p.Leu487=
ENST00000521011.1:n.424C>T
NM_000046.3:c.1459C>T NP_000037.2:p.Leu487=
XM_011543390.1:c.1459C>T XP_011541692.1:p.Leu487=
NM_000046.4:c.1459C>T NP_000037.2:p.Leu487=
NM_000046.5:c.1459C>T MANE Select NP_000037.2:p.Leu487=
Search 100 bp 5'
Search 100 bp 3'