Canonical Allele Identifier: CA515391436

Gene: ARSA

Linked Data

• ClinVar Variation Id: 1659536
• ClinVar RCV Id: RCV002178639
• dbSNP Id: rs2146723907
• COSMIC: COSM6095503
• MyVariant Identifiers: chr22:g.51065403G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50626975G>A , CM000684.2:g.50626975G>A	GRCh38
NC_000022.10:g.51065403G>A , CM000684.1:g.51065403G>A	GRCh37
NC_000022.9:g.49412269G>A	NCBI36
NG_009260.2:g.6205C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000216124.10:c.543C>T MANE Select	ENSP00000216124.5:p.Ile181=
ENST00000216124.9:c.543C>T	ENSP00000216124.5:p.Ile181=
ENST00000356098.9:c.543C>T	ENSP00000348406.5:p.Ile181=
ENST00000395619.3:c.543C>T	ENSP00000378981.3:p.Ile181=
ENST00000395621.7:c.543C>T	ENSP00000378983.3:p.Ile181=
ENST00000453344.6:c.285C>T	ENSP00000412542.2:p.Ile95=
ENST00000551731.1:n.1047C>T
NM_000487.5:c.543C>T	NP_000478.3:p.Ile181=
NM_001085425.2:c.543C>T	NP_001078894.2:p.Ile181=
NM_001085426.2:c.543C>T	NP_001078895.2:p.Ile181=
NM_001085427.2:c.543C>T	NP_001078896.2:p.Ile181=
NM_001085428.2:c.285C>T	NP_001078897.1:p.Ile95=
XM_011530690.1:c.285C>T	XP_011528992.1:p.Ile95=
XM_011530691.1:c.543C>T	XP_011528993.1:p.Ile181=
NM_001362782.1:c.285C>T	NP_001349711.1:p.Ile95=
XM_011530691.3:c.543C>T	XP_011528993.1:p.Ile181=
XM_017028800.1:c.543C>T	XP_016884289.1:p.Ile181=
XM_024452241.1:c.543C>T	XP_024308009.1:p.Ile181=
NM_000487.6:c.543C>T MANE Select	NP_000478.3:p.Ile181=
NM_001085425.3:c.543C>T	NP_001078894.2:p.Ile181=
NM_001085426.3:c.543C>T	NP_001078895.2:p.Ile181=
NM_001085427.3:c.543C>T	NP_001078896.2:p.Ile181=
NM_001085428.3:c.285C>T	NP_001078897.1:p.Ile95=
NM_001362782.2:c.285C>T	NP_001349711.1:p.Ile95=