Canonical Allele Identifier: CA397687882

Gene: ASPA SPATA22

Linked Data

• gnomAD v4: 17-3499023-G-C
• MyVariant Identifiers: chr17:g.3402317G>C (hg19) ; chr17:g.3499023G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3499023G>C , CM000679.2:g.3499023G>C	GRCh38
NC_000017.10:g.3402317G>C , CM000679.1:g.3402317G>C	GRCh37
NC_000017.9:g.3349067G>C	NCBI36
NG_008399.1:g.29914G>C
NG_008399.2:g.30378G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263080.3:c.877G>C (ASPA) MANE Select	ENSP00000263080.2:p.Glu293Gln
ENST00000263080.2:c.877G>C (ASPA)	ENSP00000263080.2:p.Glu293Gln
ENST00000456349.6:c.877G>C (ASPA)	ENSP00000409976.2:p.Glu293Gln
ENST00000541913.5:c.-74+14389C>G (SPATA22)	ENSP00000441920.1:n.-74+14389C>G
ENST00000570318.1:c.-74+14588C>G (SPATA22)	ENSP00000459147.1:n.-74+14588C>G
NM_000049.2:c.877G>C (ASPA)	NP_000040.1:p.Glu293Gln
NM_001128085.1:c.877G>C (ASPA)	NP_001121557.1:p.Glu293Gln
XM_005256829.1:c.-74+14389C>G (SPATA22)	XP_005256886.1:n.-74+14389C>G
XM_005256830.1:c.-74+14389C>G (SPATA22)	XP_005256887.1:n.-74+14389C>G
XM_006721527.2:c.877G>C (ASPA)	XP_006721590.1:p.Glu293Gln
NM_001321336.1:c.-74+14389C>G (SPATA22)	NP_001308265.1:n.-74+14389C>G
NM_001321337.1:c.-74+14389C>G (SPATA22)	NP_001308266.1:n.-74+14389C>G
XM_017024661.1:c.877G>C (ASPA)	XP_016880150.1:p.Glu293Gln
XM_024450764.1:c.877G>C (ASPA)	XP_024306532.1:p.Glu293Gln
XR_934026.2:n.1144G>C (ASPA)
NM_000049.3:c.877G>C (ASPA)	NP_000040.1:p.Glu293Gln
NM_000049.4:c.877G>C (ASPA) MANE Select	NP_000040.1:p.Glu293Gln
NM_001321336.2:c.-74+14389C>G (SPATA22)	NP_001308265.1:n.-74+14389C>G
NM_001321337.2:c.-74+14389C>G (SPATA22)	NP_001308266.1:n.-74+14389C>G