Canonical Allele Identifier: CA445400292
Gene: ARSB HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.78076277A>T (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000264914.10:c.1545T>A MANE Select ENSP00000264914.4:p.Pro515=
ENST00000264914.8:c.1545T>A ENSP00000264914.4:p.Pro515=
ENST00000521011.1:n.510T>A
NM_000046.3:c.1545T>A NP_000037.2:p.Pro515=
XM_011543390.1:c.1545T>A XP_011541692.1:p.Pro515=
NM_000046.4:c.1545T>A NP_000037.2:p.Pro515=
NM_000046.5:c.1545T>A MANE Select NP_000037.2:p.Pro515=