Canonical Allele Identifier: CA397687179
Gene: ASPA HGNC NCBI
SPATA22 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.3498891G>C , CM000679.2:g.3498891G>C GRCh38
NC_000017.10:g.3402185G>C , CM000679.1:g.3402185G>C GRCh37
NC_000017.9:g.3348935G>C NCBI36
NG_008399.1:g.29782G>C
NG_008399.2:g.30246G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000263080.3:c.745G>C (ASPA) MANE Select ENSP00000263080.2:p.Asp249His
ENST00000263080.2:c.745G>C ENSP00000263080.2:p.Asp249His
ENST00000456349.6:c.745G>C ENSP00000409976.2:p.Asp249His
ENST00000541913.5:c.-74+14521C>G ENSP00000441920.1:p.=
ENST00000570318.1:c.-74+14720C>G ENSP00000459147.1:p.=
NM_000049.2:c.745G>C (ASPA) NP_000040.1:p.Asp249His
NM_001128085.1:c.745G>C (ASPA) NP_001121557.1:p.Asp249His
XM_005256829.1:c.-74+14521C>G (SPATA22) XP_005256886.1:p.=
XM_005256830.1:c.-74+14521C>G (SPATA22) XP_005256887.1:p.=
XM_006721527.2:c.745G>C (ASPA) XP_006721590.1:p.Asp249His
XR_934026.1:n.1012G>C (ASPA)
NM_001321336.1:c.-74+14521C>G (SPATA22) NP_001308265.1:p.=
NM_001321337.1:c.-74+14521C>G (SPATA22) NP_001308266.1:p.=
XM_017024661.1:c.745G>C (ASPA) XP_016880150.1:p.Asp249His
XM_024450764.1:c.745G>C (ASPA) XP_024306532.1:p.Asp249His
XR_934026.2:n.1012G>C (ASPA)
NM_000049.3:c.745G>C (ASPA) NP_000040.1:p.Asp249His
NM_000049.4:c.745G>C (ASPA) MANE Select NP_000040.1:p.Asp249His
NM_001321336.2:c.-74+14521C>G (SPATA22) NP_001308265.1:p.=
NM_001321337.2:c.-74+14521C>G (SPATA22) NP_001308266.1:p.=