Canonical Allele Identifier: CA2635398175

Gene: ASPA SPATA22

Linked Data

• gnomAD v4: 17-3499420-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3499420G>A , CM000679.2:g.3499420G>A	GRCh38
NC_000017.10:g.3402714G>A , CM000679.1:g.3402714G>A	GRCh37
NC_000017.9:g.3349464G>A	NCBI36
NG_008399.1:g.30311G>A
NG_008399.2:g.30775G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263080.3:c.*332G>A (ASPA) MANE Select	ENSP00000263080.2:n.*332G>A
ENST00000263080.2:c.*332G>A (ASPA)	ENSP00000263080.2:n.*332G>A
ENST00000541913.5:c.-74+13992C>T (SPATA22)	ENSP00000441920.1:n.-74+13992C>T
ENST00000570318.1:c.-74+14191C>T (SPATA22)	ENSP00000459147.1:n.-74+14191C>T
XM_005256829.1:c.-74+13992C>T (SPATA22)	XP_005256886.1:n.-74+13992C>T
XM_005256830.1:c.-74+13992C>T (SPATA22)	XP_005256887.1:n.-74+13992C>T
NM_001321336.1:c.-74+13992C>T (SPATA22)	NP_001308265.1:n.-74+13992C>T
NM_001321337.1:c.-74+13992C>T (SPATA22)	NP_001308266.1:n.-74+13992C>T
XM_017024661.1:c.*332G>A (ASPA)	XP_016880150.1:n.*332G>A
XM_024450764.1:c.*332G>A (ASPA)	XP_024306532.1:n.*332G>A
NM_000049.3:c.*332G>A (ASPA)	NP_000040.1:n.*332G>A
NM_000049.4:c.*332G>A (ASPA) MANE Select	NP_000040.1:n.*332G>A
NM_001321336.2:c.-74+13992C>T (SPATA22)	NP_001308265.1:n.-74+13992C>T
NM_001321337.2:c.-74+13992C>T (SPATA22)	NP_001308266.1:n.-74+13992C>T