Canonical Allele Identifier: CA397686249

Gene: ASPA SPATA22

Linked Data

• gnomAD v4: 17-3494436-G-A
• MyVariant Identifiers: chr17:g.3397730G>A (hg19) ; chr17:g.3494436G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3494436G>A , CM000679.2:g.3494436G>A	GRCh38
NC_000017.10:g.3397730G>A , CM000679.1:g.3397730G>A	GRCh37
NC_000017.9:g.3344480G>A	NCBI36
NG_008399.1:g.25327G>A
NG_008399.2:g.25791G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263080.3:c.721G>A (ASPA) MANE Select	ENSP00000263080.2:p.Ala241Thr
ENST00000263080.2:c.721G>A (ASPA)	ENSP00000263080.2:p.Ala241Thr
ENST00000456349.6:c.721G>A (ASPA)	ENSP00000409976.2:p.Ala241Thr
ENST00000541913.5:c.-74+18976C>T (SPATA22)	ENSP00000441920.1:n.-74+18976C>T
ENST00000570318.1:c.-74+19175C>T (SPATA22)	ENSP00000459147.1:n.-74+19175C>T
NM_000049.2:c.721G>A (ASPA)	NP_000040.1:p.Ala241Thr
NM_001128085.1:c.721G>A (ASPA)	NP_001121557.1:p.Ala241Thr
XM_005256829.1:c.-74+18976C>T (SPATA22)	XP_005256886.1:n.-74+18976C>T
XM_005256830.1:c.-74+18976C>T (SPATA22)	XP_005256887.1:n.-74+18976C>T
XM_006721527.2:c.721G>A (ASPA)	XP_006721590.1:p.Ala241Thr
XR_934026.1:n.896G>A (ASPA)
NM_001321336.1:c.-74+18976C>T (SPATA22)	NP_001308265.1:n.-74+18976C>T
NM_001321337.1:c.-74+18976C>T (SPATA22)	NP_001308266.1:n.-74+18976C>T
XM_017024661.1:c.721G>A (ASPA)	XP_016880150.1:p.Ala241Thr
XM_024450764.1:c.721G>A (ASPA)	XP_024306532.1:p.Ala241Thr
XR_934026.2:n.896G>A (ASPA)
NM_000049.3:c.721G>A (ASPA)	NP_000040.1:p.Ala241Thr
NM_000049.4:c.721G>A (ASPA) MANE Select	NP_000040.1:p.Ala241Thr
NM_001321336.2:c.-74+18976C>T (SPATA22)	NP_001308265.1:n.-74+18976C>T
NM_001321337.2:c.-74+18976C>T (SPATA22)	NP_001308266.1:n.-74+18976C>T