Canonical Allele Identifier: CA2243897589
Gene: ASPA HGNC NCBI
SPATA22 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.3499378T= , CM000679.2:g.3499378T= GRCh38
NC_000017.10:g.3402672T= , CM000679.1:g.3402672T= GRCh37
NC_000017.9:g.3349422T= NCBI36
NG_008399.1:g.30269T=
NG_008399.2:g.30733T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000263080.3:c.*290T= (ASPA) MANE Select ENSP00000263080.2:n.*290T=
ENST00000263080.2:c.*290T= (ASPA) ENSP00000263080.2:n.*290T=
ENST00000541913.5:c.-74+14034A= (SPATA22) ENSP00000441920.1:n.-74+14034A=
ENST00000570318.1:c.-74+14233A= (SPATA22) ENSP00000459147.1:n.-74+14233A=
NM_000049.2:c.*290T= (ASPA) NP_000040.1:n.*290T=
NM_001128085.1:c.*290T= (ASPA) NP_001121557.1:n.*290T=
XM_005256829.1:c.-74+14034A= (SPATA22) XP_005256886.1:n.-74+14034A=
XM_005256830.1:c.-74+14034A= (SPATA22) XP_005256887.1:n.-74+14034A=
XM_006721527.2:c.*290T= (ASPA) XP_006721590.1:n.*290T=
NM_001321336.1:c.-74+14034A= (SPATA22) NP_001308265.1:n.-74+14034A=
NM_001321337.1:c.-74+14034A= (SPATA22) NP_001308266.1:n.-74+14034A=
XM_017024661.1:c.*290T= (ASPA) XP_016880150.1:n.*290T=
XM_024450764.1:c.*290T= (ASPA) XP_024306532.1:n.*290T=
XR_934026.2:n.1499T= (ASPA)
NM_000049.3:c.*290T= (ASPA) NP_000040.1:n.*290T=
NM_000049.4:c.*290T= (ASPA) MANE Select NP_000040.1:n.*290T=
NM_001321336.2:c.-74+14034A= (SPATA22) NP_001308265.1:n.-74+14034A=
NM_001321337.2:c.-74+14034A= (SPATA22) NP_001308266.1:n.-74+14034A=