Canonical Allele Identifier: CA2635398193

Gene: ASPA SPATA22

Linked Data

• gnomAD v4: 17-3499436-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3499436C>A , CM000679.2:g.3499436C>A	GRCh38
NC_000017.10:g.3402730C>A , CM000679.1:g.3402730C>A	GRCh37
NC_000017.9:g.3349480C>A	NCBI36
NG_008399.1:g.30327C>A
NG_008399.2:g.30791C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263080.3:c.*348C>A (ASPA) MANE Select	ENSP00000263080.2:n.*348C>A
ENST00000263080.2:c.*348C>A (ASPA)	ENSP00000263080.2:n.*348C>A
ENST00000541913.5:c.-74+13976G>T (SPATA22)	ENSP00000441920.1:n.-74+13976G>T
ENST00000570318.1:c.-74+14175G>T (SPATA22)	ENSP00000459147.1:n.-74+14175G>T
XM_005256829.1:c.-74+13976G>T (SPATA22)	XP_005256886.1:n.-74+13976G>T
XM_005256830.1:c.-74+13976G>T (SPATA22)	XP_005256887.1:n.-74+13976G>T
NM_001321336.1:c.-74+13976G>T (SPATA22)	NP_001308265.1:n.-74+13976G>T
NM_001321337.1:c.-74+13976G>T (SPATA22)	NP_001308266.1:n.-74+13976G>T
XM_017024661.1:c.*348C>A (ASPA)	XP_016880150.1:n.*348C>A
XM_024450764.1:c.*348C>A (ASPA)	XP_024306532.1:n.*348C>A
NM_000049.3:c.*348C>A (ASPA)	NP_000040.1:n.*348C>A
NM_000049.4:c.*348C>A (ASPA) MANE Select	NP_000040.1:n.*348C>A
NM_001321336.2:c.-74+13976G>T (SPATA22)	NP_001308265.1:n.-74+13976G>T
NM_001321337.2:c.-74+13976G>T (SPATA22)	NP_001308266.1:n.-74+13976G>T