Canonical Allele Identifier: CA252358
Gene: ASPA HGNC NCBI
SPATA22 HGNC NCBI

Linked Data

ClinVar Variation Id: 2608
dbSNP Id: rs104894549
gnomAD v2: 17-3397663-C-A
gnomAD v3: 17-3494369-C-A
gnomAD v4: 17-3494369-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.3494369C>A , CM000679.2:g.3494369C>A GRCh38
NC_000017.10:g.3397663C>A , CM000679.1:g.3397663C>A GRCh37
NC_000017.9:g.3344413C>A NCBI36
NG_008399.1:g.25260C>A
NG_008399.2:g.25724C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263080.3:c.654C>A (ASPA) MANE Select ENSP00000263080.2:p.Cys218Ter
ENST00000263080.2:c.654C>A (ASPA) ENSP00000263080.2:p.Cys218Ter
ENST00000456349.6:c.654C>A (ASPA) ENSP00000409976.2:p.Cys218Ter
ENST00000541913.5:c.-74+19043G>T (SPATA22) ENSP00000441920.1:n.-74+19043G>T
ENST00000570318.1:c.-74+19242G>T (SPATA22) ENSP00000459147.1:n.-74+19242G>T
NM_000049.2:c.654C>A (ASPA) NP_000040.1:p.Cys218Ter
NM_001128085.1:c.654C>A (ASPA) NP_001121557.1:p.Cys218Ter
XM_005256829.1:c.-74+19043G>T (SPATA22) XP_005256886.1:n.-74+19043G>T
XM_005256830.1:c.-74+19043G>T (SPATA22) XP_005256887.1:n.-74+19043G>T
XM_006721527.2:c.654C>A (ASPA) XP_006721590.1:p.Cys218Ter
XR_934026.1:n.829C>A (ASPA)
NM_001321336.1:c.-74+19043G>T (SPATA22) NP_001308265.1:n.-74+19043G>T
NM_001321337.1:c.-74+19043G>T (SPATA22) NP_001308266.1:n.-74+19043G>T
XM_017024661.1:c.654C>A (ASPA) XP_016880150.1:p.Cys218Ter
XM_024450764.1:c.654C>A (ASPA) XP_024306532.1:p.Cys218Ter
XR_934026.2:n.829C>A (ASPA)
NM_000049.3:c.654C>A (ASPA) NP_000040.1:p.Cys218Ter
NM_000049.4:c.654C>A (ASPA) MANE Select NP_000040.1:p.Cys218Ter
NM_001321336.2:c.-74+19043G>T (SPATA22) NP_001308265.1:n.-74+19043G>T
NM_001321337.2:c.-74+19043G>T (SPATA22) NP_001308266.1:n.-74+19043G>T