Canonical Allele Identifier: CA412166718

Gene: ARSA

Linked Data

• gnomAD v4: 22-50625167-T-A
• MyVariant Identifiers: chr22:g.51063595T>A (hg19) ; chr22:g.50625167T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50625167T>A , CM000684.2:g.50625167T>A	GRCh38
NC_000022.10:g.51063595T>A , CM000684.1:g.51063595T>A	GRCh37
NC_000022.9:g.49410461T>A	NCBI36
NG_009260.2:g.8013A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000216124.10:c.1508A>T MANE Select	ENSP00000216124.5:p.His503Leu
ENST00000216124.9:c.1508A>T	ENSP00000216124.5:p.His503Leu
ENST00000356098.9:c.1508A>T	ENSP00000348406.5:p.His503Leu
ENST00000395619.3:c.1508A>T	ENSP00000378981.3:p.His503Leu
ENST00000395621.7:c.1508A>T	ENSP00000378983.3:p.His503Leu
ENST00000453344.6:c.1250A>T	ENSP00000412542.2:p.His417Leu
ENST00000608497.1:c.180+196A>T
NM_000487.5:c.1508A>T	NP_000478.3:p.His503Leu
NM_001085425.2:c.1508A>T	NP_001078894.2:p.His503Leu
NM_001085426.2:c.1508A>T	NP_001078895.2:p.His503Leu
NM_001085427.2:c.1508A>T	NP_001078896.2:p.His503Leu
NM_001085428.2:c.1250A>T	NP_001078897.1:p.His417Leu
XM_011530690.1:c.1250A>T	XP_011528992.1:p.His417Leu
XM_011530691.1:c.*241A>T	XP_011528993.1:n.*241A>T
NM_001362782.1:c.1250A>T	NP_001349711.1:p.His417Leu
XM_011530691.3:c.*241A>T	XP_011528993.1:n.*241A>T
XM_017028800.1:c.1622A>T	XP_016884289.1:p.His541Leu
XM_024452241.1:c.*241A>T	XP_024308009.1:n.*241A>T
NM_000487.6:c.1508A>T MANE Select	NP_000478.3:p.His503Leu
NM_001085425.3:c.1508A>T	NP_001078894.2:p.His503Leu
NM_001085426.3:c.1508A>T	NP_001078895.2:p.His503Leu
NM_001085427.3:c.1508A>T	NP_001078896.2:p.His503Leu
NM_001085428.3:c.1250A>T	NP_001078897.1:p.His417Leu
NM_001362782.2:c.1250A>T	NP_001349711.1:p.His417Leu