Canonical Allele Identifier: CA8289002
Gene: ASPA HGNC NCBI
SPATA22 HGNC NCBI

Linked Data

ClinVar Variation Id: 699687
dbSNP Id: rs528179434
gnomAD v2: 17-3397646-A-G
gnomAD v3: 17-3494352-A-G
gnomAD v4: 17-3494352-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.3494352A>G , CM000679.2:g.3494352A>G GRCh38
NC_000017.10:g.3397646A>G , CM000679.1:g.3397646A>G GRCh37
NC_000017.9:g.3344396A>G NCBI36
NG_008399.1:g.25243A>G
NG_008399.2:g.25707A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263080.3:c.637A>G (ASPA) MANE Select ENSP00000263080.2:p.Lys213Glu
ENST00000263080.2:c.637A>G (ASPA) ENSP00000263080.2:p.Lys213Glu
ENST00000456349.6:c.637A>G (ASPA) ENSP00000409976.2:p.Lys213Glu
ENST00000541913.5:c.-74+19060T>C (SPATA22) ENSP00000441920.1:n.-74+19060T>C
ENST00000570318.1:c.-74+19259T>C (SPATA22) ENSP00000459147.1:n.-74+19259T>C
NM_000049.2:c.637A>G (ASPA) NP_000040.1:p.Lys213Glu
NM_001128085.1:c.637A>G (ASPA) NP_001121557.1:p.Lys213Glu
XM_005256829.1:c.-74+19060T>C (SPATA22) XP_005256886.1:n.-74+19060T>C
XM_005256830.1:c.-74+19060T>C (SPATA22) XP_005256887.1:n.-74+19060T>C
XM_006721527.2:c.637A>G (ASPA) XP_006721590.1:p.Lys213Glu
XR_934026.1:n.812A>G (ASPA)
NM_001321336.1:c.-74+19060T>C (SPATA22) NP_001308265.1:n.-74+19060T>C
NM_001321337.1:c.-74+19060T>C (SPATA22) NP_001308266.1:n.-74+19060T>C
XM_017024661.1:c.637A>G (ASPA) XP_016880150.1:p.Lys213Glu
XM_024450764.1:c.637A>G (ASPA) XP_024306532.1:p.Lys213Glu
XR_934026.2:n.812A>G (ASPA)
NM_000049.3:c.637A>G (ASPA) NP_000040.1:p.Lys213Glu
NM_000049.4:c.637A>G (ASPA) MANE Select NP_000040.1:p.Lys213Glu
NM_001321336.2:c.-74+19060T>C (SPATA22) NP_001308265.1:n.-74+19060T>C
NM_001321337.2:c.-74+19060T>C (SPATA22) NP_001308266.1:n.-74+19060T>C