Canonical Allele Identifier: CA16041827

Gene: ASPA SPATA22

Linked Data

• ClinVar Variation Id: 371086
• ClinVar RCV Id: RCV000411129 ; RCV003330657
• dbSNP Id: rs1057516995
• gnomAD v4: 17-3494446-A-G
• MyVariant Identifiers: chr17:g.3397740A>G (hg19) ; chr17:g.3494446A>G (hg38)
• PubMed: PMID:12638939 ; PMID:16802711

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3494446A>G , CM000679.2:g.3494446A>G	GRCh38
NC_000017.10:g.3397740A>G , CM000679.1:g.3397740A>G	GRCh37
NC_000017.9:g.3344490A>G	NCBI36
NG_008399.1:g.25337A>G
NG_008399.2:g.25801A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263080.3:c.731A>G (ASPA) MANE Select	ENSP00000263080.2:p.His244Arg
ENST00000263080.2:c.731A>G (ASPA)	ENSP00000263080.2:p.His244Arg
ENST00000456349.6:c.731A>G (ASPA)	ENSP00000409976.2:p.His244Arg
ENST00000541913.5:c.-74+18966T>C (SPATA22)	ENSP00000441920.1:n.-74+18966T>C
ENST00000570318.1:c.-74+19165T>C (SPATA22)	ENSP00000459147.1:n.-74+19165T>C
NM_000049.2:c.731A>G (ASPA)	NP_000040.1:p.His244Arg
NM_001128085.1:c.731A>G (ASPA)	NP_001121557.1:p.His244Arg
XM_005256829.1:c.-74+18966T>C (SPATA22)	XP_005256886.1:n.-74+18966T>C
XM_005256830.1:c.-74+18966T>C (SPATA22)	XP_005256887.1:n.-74+18966T>C
XM_006721527.2:c.731A>G (ASPA)	XP_006721590.1:p.His244Arg
XR_934026.1:n.906A>G (ASPA)
NM_001321336.1:c.-74+18966T>C (SPATA22)	NP_001308265.1:n.-74+18966T>C
NM_001321337.1:c.-74+18966T>C (SPATA22)	NP_001308266.1:n.-74+18966T>C
XM_017024661.1:c.731A>G (ASPA)	XP_016880150.1:p.His244Arg
XM_024450764.1:c.731A>G (ASPA)	XP_024306532.1:p.His244Arg
XR_934026.2:n.906A>G (ASPA)
NM_000049.3:c.731A>G (ASPA)	NP_000040.1:p.His244Arg
NM_000049.4:c.731A>G (ASPA) MANE Select	NP_000040.1:p.His244Arg
NM_001321336.2:c.-74+18966T>C (SPATA22)	NP_001308265.1:n.-74+18966T>C
NM_001321337.2:c.-74+18966T>C (SPATA22)	NP_001308266.1:n.-74+18966T>C