Canonical Allele Identifier: CA115995
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 3083
ClinVar RCV Id: RCV000003229
dbSNP Id: rs74315478

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50625653G>A , CM000684.2:g.50625653G>A GRCh38
NC_000022.10:g.51064081G>A , CM000684.1:g.51064081G>A GRCh37
NC_000022.9:g.49410947G>A NCBI36
NG_009260.2:g.7527C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000216124.10:c.1136C>T MANE Select ENSP00000216124.5:p.Pro379Leu
ENST00000216124.9:c.1136C>T ENSP00000216124.5:p.Pro379Leu
ENST00000356098.9:c.1136C>T ENSP00000348406.5:p.Pro379Leu
ENST00000395619.3:c.1136C>T ENSP00000378981.3:p.Pro379Leu
ENST00000395621.7:c.1136C>T ENSP00000378983.3:p.Pro379Leu
ENST00000453344.6:c.878C>T ENSP00000412542.2:p.Pro293Leu
ENST00000608497.1:n.4C>T
NM_000487.5:c.1136C>T NP_000478.3:p.Pro379Leu
NM_001085425.2:c.1136C>T NP_001078894.2:p.Pro379Leu
NM_001085426.2:c.1136C>T NP_001078895.2:p.Pro379Leu
NM_001085427.2:c.1136C>T NP_001078896.2:p.Pro379Leu
NM_001085428.2:c.878C>T NP_001078897.1:p.Pro293Leu
XM_011530690.1:c.878C>T XP_011528992.1:p.Pro293Leu
XM_011530691.1:c.1108-189C>T XP_011528993.1:p.=
NM_001362782.1:c.878C>T NP_001349711.1:p.Pro293Leu
XM_011530691.3:c.1108-189C>T XP_011528993.1:p.=
XM_017028800.1:c.1136C>T XP_016884289.1:p.Pro379Leu
XM_024452241.1:c.1108-189C>T XP_024308009.1:p.=
NM_000487.6:c.1136C>T MANE Select NP_000478.3:p.Pro379Leu
NM_001085425.3:c.1136C>T NP_001078894.2:p.Pro379Leu
NM_001085426.3:c.1136C>T NP_001078895.2:p.Pro379Leu
NM_001085427.3:c.1136C>T NP_001078896.2:p.Pro379Leu
NM_001085428.3:c.878C>T NP_001078897.1:p.Pro293Leu
NM_001362782.2:c.878C>T NP_001349711.1:p.Pro293Leu