Canonical Allele Identifier: CA202975
Gene: ASPA HGNC NCBI
SPATA22 HGNC NCBI

Linked Data

ClinVar Variation Id: 197621
dbSNP Id: rs12948217
gnomAD v2: 17-3397702-C-T
gnomAD v3: 17-3494408-C-T
gnomAD v4: 17-3494408-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.3494408C>T , CM000679.2:g.3494408C>T GRCh38
NC_000017.10:g.3397702C>T , CM000679.1:g.3397702C>T GRCh37
NC_000017.9:g.3344452C>T NCBI36
NG_008399.1:g.25299C>T
NG_008399.2:g.25763C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000263080.3:c.693C>T (ASPA) MANE Select ENSP00000263080.2:p.Tyr231=
ENST00000263080.2:c.693C>T (ASPA) ENSP00000263080.2:p.Tyr231=
ENST00000456349.6:c.693C>T (ASPA) ENSP00000409976.2:p.Tyr231=
ENST00000541913.5:c.-74+19004G>A (SPATA22) ENSP00000441920.1:n.-74+19004G>A
ENST00000570318.1:c.-74+19203G>A (SPATA22) ENSP00000459147.1:n.-74+19203G>A
NM_000049.2:c.693C>T (ASPA) NP_000040.1:p.Tyr231=
NM_001128085.1:c.693C>T (ASPA) NP_001121557.1:p.Tyr231=
XM_005256829.1:c.-74+19004G>A (SPATA22) XP_005256886.1:n.-74+19004G>A
XM_005256830.1:c.-74+19004G>A (SPATA22) XP_005256887.1:n.-74+19004G>A
XM_006721527.2:c.693C>T (ASPA) XP_006721590.1:p.Tyr231=
XR_934026.1:n.868C>T (ASPA)
NM_001321336.1:c.-74+19004G>A (SPATA22) NP_001308265.1:n.-74+19004G>A
NM_001321337.1:c.-74+19004G>A (SPATA22) NP_001308266.1:n.-74+19004G>A
XM_017024661.1:c.693C>T (ASPA) XP_016880150.1:p.Tyr231=
XM_024450764.1:c.693C>T (ASPA) XP_024306532.1:p.Tyr231=
XR_934026.2:n.868C>T (ASPA)
NM_000049.3:c.693C>T (ASPA) NP_000040.1:p.Tyr231=
NM_000049.4:c.693C>T (ASPA) MANE Select NP_000040.1:p.Tyr231=
NM_001321336.2:c.-74+19004G>A (SPATA22) NP_001308265.1:n.-74+19004G>A
NM_001321337.2:c.-74+19004G>A (SPATA22) NP_001308266.1:n.-74+19004G>A