Canonical Allele Identifier: CA2635398191

Gene: ASPA SPATA22

Linked Data

• gnomAD v4: 17-3499435-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3499435A>C , CM000679.2:g.3499435A>C	GRCh38
NC_000017.10:g.3402729A>C , CM000679.1:g.3402729A>C	GRCh37
NC_000017.9:g.3349479A>C	NCBI36
NG_008399.1:g.30326A>C
NG_008399.2:g.30790A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263080.3:c.*347A>C (ASPA) MANE Select	ENSP00000263080.2:n.*347A>C
ENST00000263080.2:c.*347A>C (ASPA)	ENSP00000263080.2:n.*347A>C
ENST00000541913.5:c.-74+13977T>G (SPATA22)	ENSP00000441920.1:n.-74+13977T>G
ENST00000570318.1:c.-74+14176T>G (SPATA22)	ENSP00000459147.1:n.-74+14176T>G
XM_005256829.1:c.-74+13977T>G (SPATA22)	XP_005256886.1:n.-74+13977T>G
XM_005256830.1:c.-74+13977T>G (SPATA22)	XP_005256887.1:n.-74+13977T>G
NM_001321336.1:c.-74+13977T>G (SPATA22)	NP_001308265.1:n.-74+13977T>G
NM_001321337.1:c.-74+13977T>G (SPATA22)	NP_001308266.1:n.-74+13977T>G
XM_017024661.1:c.*347A>C (ASPA)	XP_016880150.1:n.*347A>C
XM_024450764.1:c.*347A>C (ASPA)	XP_024306532.1:n.*347A>C
NM_000049.3:c.*347A>C (ASPA)	NP_000040.1:n.*347A>C
NM_000049.4:c.*347A>C (ASPA) MANE Select	NP_000040.1:n.*347A>C
NM_001321336.2:c.-74+13977T>G (SPATA22)	NP_001308265.1:n.-74+13977T>G
NM_001321337.2:c.-74+13977T>G (SPATA22)	NP_001308266.1:n.-74+13977T>G