Canonical Allele Identifier: CA360338889
Gene: ARSB HGNC NCBI

Linked Data

gnomAD v4: 5-78780458-A-C
MyVariant Identifiers: chr5:g.78076281A>C (hg19) chr5:g.78780458A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.78780458A>C , CM000667.2:g.78780458A>C GRCh38
NC_000005.9:g.78076281A>C , CM000667.1:g.78076281A>C GRCh37
NC_000005.8:g.78112037A>C NCBI36
NG_007089.1:g.211077T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000264914.10:c.1541T>G MANE Select ENSP00000264914.4:p.Phe514Cys
ENST00000264914.8:c.1541T>G ENSP00000264914.4:p.Phe514Cys
ENST00000521011.1:n.506T>G
NM_000046.3:c.1541T>G NP_000037.2:p.Phe514Cys
XM_011543390.1:c.1541T>G XP_011541692.1:p.Phe514Cys
NM_000046.4:c.1541T>G NP_000037.2:p.Phe514Cys
NM_000046.5:c.1541T>G MANE Select NP_000037.2:p.Phe514Cys
Search 100 bp 5'
Search 100 bp 3'