Canonical Allele Identifier: CA308075864

Gene: CATSPERG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38354830A>C , CM000681.2:g.38354830A>C	GRCh38
NC_000019.9:g.38845470A>C , CM000681.1:g.38845470A>C	GRCh37
NC_000019.8:g.43537310A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409235.8:c.1118A>C MANE Select	ENSP00000386962.3:p.His373Pro
ENST00000312265.9:c.*37A>C	ENSP00000311314.5:n.*37A>C
ENST00000409235.7:c.1118A>C	ENSP00000386962.3:p.His373Pro
ENST00000409410.6:c.1118A>C	ENSP00000386950.2:p.His373Pro
ENST00000410018.5:c.1118A>C	ENSP00000387057.1:p.His373Pro
ENST00000412458.6:c.535A>C	ENSP00000395093.2:n.535A>C
ENST00000466060.5:n.454-3448A>C
ENST00000471517.5:c.*588A>C	ENSP00000468028.1:n.*588A>C
ENST00000489693.2:c.139A>C
NM_021185.4:c.1118A>C	NP_067008.3:p.His373Pro
XM_005259114.3:c.1118A>C	XP_005259171.1:p.His373Pro
XM_005259115.3:c.1118A>C	XP_005259172.1:p.His373Pro
XM_005259116.1:c.1118A>C	XP_005259173.1:p.His373Pro
XM_006723308.2:c.1118A>C	XP_006723371.1:p.His373Pro
XM_006723310.1:c.1118A>C	XP_006723373.1:p.His373Pro
XM_006723311.1:c.1118A>C	XP_006723374.1:p.His373Pro
XM_011527174.1:c.1118A>C	XP_011525476.1:p.His373Pro
XM_011527175.1:c.1049A>C	XP_011525477.1:p.His350Pro
XM_011527176.1:c.1118A>C	XP_011525478.1:p.His373Pro
XM_011527177.1:c.998A>C	XP_011525479.1:p.His333Pro
XM_011527178.1:c.773A>C	XP_011525480.1:p.His258Pro
XM_011527179.1:c.1118A>C	XP_011525481.1:p.His373Pro
XM_011527180.1:c.1118A>C	XP_011525482.1:p.His373Pro
XM_011527181.1:c.1118A>C	XP_011525483.1:p.His373Pro
XM_011527182.1:c.38A>C	XP_011525484.1:p.His13Pro
XR_935846.1:n.1205A>C
NM_001330496.1:c.1118A>C	NP_001317425.1:p.His373Pro
XM_005259114.4:c.1118A>C	XP_005259171.1:p.His373Pro
XM_005259115.4:c.1118A>C	XP_005259172.1:p.His373Pro
XM_005259116.2:c.1118A>C	XP_005259173.1:p.His373Pro
XM_006723308.3:c.1118A>C	XP_006723371.1:p.His373Pro
XM_006723310.2:c.1118A>C	XP_006723373.1:p.His373Pro
XM_006723311.2:c.1118A>C	XP_006723374.1:p.His373Pro
XM_011527174.2:c.1118A>C	XP_011525476.1:p.His373Pro
XM_011527175.2:c.1049A>C	XP_011525477.1:p.His350Pro
XM_011527176.2:c.1118A>C	XP_011525478.1:p.His373Pro
XM_011527177.2:c.998A>C	XP_011525479.1:p.His333Pro
XM_011527178.2:c.773A>C	XP_011525480.1:p.His258Pro
XM_011527182.2:c.38A>C	XP_011525484.1:p.His13Pro
XM_017027054.1:c.773A>C	XP_016882543.1:p.His258Pro
XR_935846.2:n.1205A>C
NM_021185.5:c.1118A>C MANE Select	NP_067008.3:p.His373Pro
NM_001330496.2:c.1118A>C	NP_001317425.1:p.His373Pro