Canonical Allele Identifier: CA412176406

Gene: ARSA

Linked Data

• COSMIC: COSM5981884
• MyVariant Identifiers: chr22:g.51065126A>C (hg19) ; chr22:g.50626698A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50626698A>C , CM000684.2:g.50626698A>C	GRCh38
NC_000022.10:g.51065126A>C , CM000684.1:g.51065126A>C	GRCh37
NC_000022.9:g.49411992A>C	NCBI36
NG_009260.2:g.6482T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216124.10:c.747T>G MANE Select	ENSP00000216124.5:p.Phe249Leu
ENST00000216124.9:c.747T>G	ENSP00000216124.5:p.Phe249Leu
ENST00000356098.9:c.747T>G	ENSP00000348406.5:p.Phe249Leu
ENST00000395619.3:c.747T>G	ENSP00000378981.3:p.Phe249Leu
ENST00000395621.7:c.747T>G	ENSP00000378983.3:p.Phe249Leu
ENST00000453344.6:c.489T>G	ENSP00000412542.2:p.Phe163Leu
ENST00000551731.1:n.1324T>G
NM_000487.5:c.747T>G	NP_000478.3:p.Phe249Leu
NM_001085425.2:c.747T>G	NP_001078894.2:p.Phe249Leu
NM_001085426.2:c.747T>G	NP_001078895.2:p.Phe249Leu
NM_001085427.2:c.747T>G	NP_001078896.2:p.Phe249Leu
NM_001085428.2:c.489T>G	NP_001078897.1:p.Phe163Leu
XM_011530690.1:c.489T>G	XP_011528992.1:p.Phe163Leu
XM_011530691.1:c.747T>G	XP_011528993.1:p.Phe249Leu
NM_001362782.1:c.489T>G	NP_001349711.1:p.Phe163Leu
XM_011530691.3:c.747T>G	XP_011528993.1:p.Phe249Leu
XM_017028800.1:c.747T>G	XP_016884289.1:p.Phe249Leu
XM_024452241.1:c.747T>G	XP_024308009.1:p.Phe249Leu
NM_000487.6:c.747T>G MANE Select	NP_000478.3:p.Phe249Leu
NM_001085425.3:c.747T>G	NP_001078894.2:p.Phe249Leu
NM_001085426.3:c.747T>G	NP_001078895.2:p.Phe249Leu
NM_001085427.3:c.747T>G	NP_001078896.2:p.Phe249Leu
NM_001085428.3:c.489T>G	NP_001078897.1:p.Phe163Leu
NM_001362782.2:c.489T>G	NP_001349711.1:p.Phe163Leu