Canonical Allele Identifier: CA9412603

Gene: CATSPERG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38346513G>A , CM000681.2:g.38346513G>A	GRCh38
NC_000019.9:g.38837153G>A , CM000681.1:g.38837153G>A	GRCh37
NC_000019.8:g.43528993G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409235.8:c.733G>A MANE Select	ENSP00000386962.3:p.Asp245Asn
ENST00000312265.9:c.664G>A	ENSP00000311314.5:p.Asp222Asn
ENST00000409235.7:c.733G>A	ENSP00000386962.3:p.Asp245Asn
ENST00000409410.6:c.733G>A	ENSP00000386950.2:p.Asp245Asn
ENST00000410018.5:c.733G>A	ENSP00000387057.1:p.Asp245Asn
ENST00000412458.6:c.322G>A	ENSP00000395093.2:p.Asp108Asn
ENST00000466060.5:n.361G>A
ENST00000467739.1:n.30G>A
ENST00000471517.5:c.*375G>A	ENSP00000468028.1:n.*375G>A
ENST00000475343.6:c.*126G>A	ENSP00000467947.1:n.*126G>A
ENST00000488473.1:n.606G>A
NM_021185.4:c.733G>A	NP_067008.3:p.Asp245Asn
XM_005259114.3:c.733G>A	XP_005259171.1:p.Asp245Asn
XM_005259115.3:c.733G>A	XP_005259172.1:p.Asp245Asn
XM_005259116.1:c.733G>A	XP_005259173.1:p.Asp245Asn
XM_006723308.2:c.733G>A	XP_006723371.1:p.Asp245Asn
XM_006723310.1:c.733G>A	XP_006723373.1:p.Asp245Asn
XM_006723311.1:c.733G>A	XP_006723374.1:p.Asp245Asn
XM_011527174.1:c.733G>A	XP_011525476.1:p.Asp245Asn
XM_011527175.1:c.664G>A	XP_011525477.1:p.Asp222Asn
XM_011527176.1:c.733G>A	XP_011525478.1:p.Asp245Asn
XM_011527177.1:c.613G>A	XP_011525479.1:p.Asp205Asn
XM_011527178.1:c.388G>A	XP_011525480.1:p.Asp130Asn
XM_011527179.1:c.733G>A	XP_011525481.1:p.Asp245Asn
XM_011527180.1:c.733G>A	XP_011525482.1:p.Asp245Asn
XM_011527181.1:c.733G>A	XP_011525483.1:p.Asp245Asn
XM_011527182.1:c.-176G>A	XP_011525484.1:n.-176G>A
XR_935846.1:n.820G>A
NM_001330496.1:c.733G>A	NP_001317425.1:p.Asp245Asn
XM_005259114.4:c.733G>A	XP_005259171.1:p.Asp245Asn
XM_005259115.4:c.733G>A	XP_005259172.1:p.Asp245Asn
XM_005259116.2:c.733G>A	XP_005259173.1:p.Asp245Asn
XM_006723308.3:c.733G>A	XP_006723371.1:p.Asp245Asn
XM_006723310.2:c.733G>A	XP_006723373.1:p.Asp245Asn
XM_006723311.2:c.733G>A	XP_006723374.1:p.Asp245Asn
XM_011527174.2:c.733G>A	XP_011525476.1:p.Asp245Asn
XM_011527175.2:c.664G>A	XP_011525477.1:p.Asp222Asn
XM_011527176.2:c.733G>A	XP_011525478.1:p.Asp245Asn
XM_011527177.2:c.613G>A	XP_011525479.1:p.Asp205Asn
XM_011527178.2:c.388G>A	XP_011525480.1:p.Asp130Asn
XM_011527182.2:c.-176G>A	XP_011525484.1:n.-176G>A
XM_017027054.1:c.388G>A	XP_016882543.1:p.Asp130Asn
XR_935846.2:n.820G>A
NM_021185.5:c.733G>A MANE Select	NP_067008.3:p.Asp245Asn
NM_001330496.2:c.733G>A	NP_001317425.1:p.Asp245Asn