Canonical Allele Identifier: CA980851130

Gene: ASPA SPATA22

Linked Data

• dbSNP Id: rs2073963981
• gnomAD v3: 17-3499412-T-G
• gnomAD v4: 17-3499412-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3499412T>G , CM000679.2:g.3499412T>G	GRCh38
NC_000017.10:g.3402706T>G , CM000679.1:g.3402706T>G	GRCh37
NC_000017.9:g.3349456T>G	NCBI36
NG_008399.1:g.30303T>G
NG_008399.2:g.30767T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263080.3:c.*324T>G (ASPA) MANE Select	ENSP00000263080.2:n.*324T>G
ENST00000263080.2:c.*324T>G (ASPA)	ENSP00000263080.2:n.*324T>G
ENST00000541913.5:c.-74+14000A>C (SPATA22)	ENSP00000441920.1:n.-74+14000A>C
ENST00000570318.1:c.-74+14199A>C (SPATA22)	ENSP00000459147.1:n.-74+14199A>C
XM_005256829.1:c.-74+14000A>C (SPATA22)	XP_005256886.1:n.-74+14000A>C
XM_005256830.1:c.-74+14000A>C (SPATA22)	XP_005256887.1:n.-74+14000A>C
NM_001321336.1:c.-74+14000A>C (SPATA22)	NP_001308265.1:n.-74+14000A>C
NM_001321337.1:c.-74+14000A>C (SPATA22)	NP_001308266.1:n.-74+14000A>C
XM_017024661.1:c.*324T>G (ASPA)	XP_016880150.1:n.*324T>G
XM_024450764.1:c.*324T>G (ASPA)	XP_024306532.1:n.*324T>G
NM_000049.3:c.*324T>G (ASPA)	NP_000040.1:n.*324T>G
NM_000049.4:c.*324T>G (ASPA) MANE Select	NP_000040.1:n.*324T>G
NM_001321336.2:c.-74+14000A>C (SPATA22)	NP_001308265.1:n.-74+14000A>C
NM_001321337.2:c.-74+14000A>C (SPATA22)	NP_001308266.1:n.-74+14000A>C