Canonical Allele Identifier: CA397682060

Gene: ASPA SPATA22

Linked Data

• MyVariant Identifiers: chr17:g.3384903A>C (hg19) ; chr17:g.3481609A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3481609A>C , CM000679.2:g.3481609A>C	GRCh38
NC_000017.10:g.3384903A>C , CM000679.1:g.3384903A>C	GRCh37
NC_000017.9:g.3331653A>C	NCBI36
NG_008399.1:g.12500A>C
NG_008399.2:g.12964A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000263080.3:c.243A>C (ASPA) MANE Select	ENSP00000263080.2:p.Lys81Asn
ENST00000263080.2:c.243A>C (ASPA)	ENSP00000263080.2:p.Lys81Asn
ENST00000456349.6:c.243A>C (ASPA)	ENSP00000409976.2:p.Lys81Asn
ENST00000541913.5:c.-73-12211T>G (SPATA22)	ENSP00000441920.1:n.-73-12211T>G
ENST00000570318.1:c.-73-12211T>G (SPATA22)	ENSP00000459147.1:n.-73-12211T>G
ENST00000571278.1:c.148A>C (ASPA)	ENSP00000461358.1:p.Asn50His
NM_000049.2:c.243A>C (ASPA)	NP_000040.1:p.Lys81Asn
NM_001128085.1:c.243A>C (ASPA)	NP_001121557.1:p.Lys81Asn
XM_005256829.1:c.-73-12211T>G (SPATA22)	XP_005256886.1:n.-73-12211T>G
XM_005256830.1:c.-73-12211T>G (SPATA22)	XP_005256887.1:n.-73-12211T>G
XM_006721527.2:c.243A>C (ASPA)	XP_006721590.1:p.Lys81Asn
XR_934026.1:n.418A>C (ASPA)
NM_001321336.1:c.-73-12211T>G (SPATA22)	NP_001308265.1:n.-73-12211T>G
NM_001321337.1:c.-73-12211T>G (SPATA22)	NP_001308266.1:n.-73-12211T>G
XM_017024661.1:c.243A>C (ASPA)	XP_016880150.1:p.Lys81Asn
XM_024450764.1:c.243A>C (ASPA)	XP_024306532.1:p.Lys81Asn
XR_934026.2:n.418A>C (ASPA)
NM_000049.3:c.243A>C (ASPA)	NP_000040.1:p.Lys81Asn
NM_000049.4:c.243A>C (ASPA) MANE Select	NP_000040.1:p.Lys81Asn
NM_001321336.2:c.-73-12211T>G (SPATA22)	NP_001308265.1:n.-73-12211T>G
NM_001321337.2:c.-73-12211T>G (SPATA22)	NP_001308266.1:n.-73-12211T>G