Canonical Allele Identifier: CA8214741

Gene: GSE1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.85661160G>A , CM000678.2:g.85661160G>A	GRCh38
NC_000016.9:g.85694766G>A , CM000678.1:g.85694766G>A	GRCh37
NC_000016.8:g.84252267G>A	NCBI36
NG_054715.1:g.496649G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014615.5:c.1655G>A MANE Select	NP_055430.1:p.Arg552His
ENST00000253458.12:c.1655G>A MANE Select	ENSP00000253458.6:p.Arg552His
NM_001134473.2:c.1343G>A	NP_001127945.1:p.Arg448His
NM_001134473.3:c.1343G>A	NP_001127945.1:p.Arg448His
NM_001278184.1:c.1436G>A	NP_001265113.1:p.Arg479His
NM_001278184.2:c.1436G>A	NP_001265113.1:p.Arg479His
NM_001278184.3:c.1436G>A	NP_001265113.1:p.Arg479His
NM_014615.3:c.1655G>A	NP_055430.1:p.Arg552His
NM_014615.4:c.1655G>A	NP_055430.1:p.Arg552His
ENST00000253458.11:c.1655G>A	ENSP00000253458.6:p.Arg552His
ENST00000393243.5:c.1436G>A	ENSP00000376934.1:p.Arg479His
ENST00000405402.6:c.1343G>A	ENSP00000384839.2:p.Arg448His
ENST00000412692.5:c.1075G>A
XM_005255859.3:c.3239G>A	XP_005255916.2:p.Arg1080His
XM_005255859.5:c.3779G>A	XP_005255916.3:p.Arg1260His
XM_005255860.2:c.3239G>A	XP_005255917.2:p.Arg1080His
XM_005255860.3:c.3779G>A	XP_005255917.3:p.Arg1260His
XM_005255861.3:c.3020G>A	XP_005255918.2:p.Arg1007His
XM_005255861.5:c.3560G>A	XP_005255918.3:p.Arg1187His
XM_005255862.2:c.3239G>A	XP_005255919.2:p.Arg1080His
XM_005255863.3:c.1691G>A	XP_005255920.1:p.Arg564His
XM_005255863.4:c.1691G>A	XP_005255920.1:p.Arg564His
XM_005255864.3:c.1685G>A	XP_005255921.1:p.Arg562His
XM_005255864.4:c.1685G>A	XP_005255921.1:p.Arg562His
XM_005255865.3:c.1466G>A	XP_005255922.1:p.Arg489His
XM_005255865.4:c.1466G>A	XP_005255922.1:p.Arg489His
XM_011522965.1:c.1763G>A	XP_011521267.1:p.Arg588His
XM_011522965.3:c.1763G>A	XP_011521267.1:p.Arg588His
XM_011522966.1:c.1646G>A	XP_011521268.1:p.Arg549His
XM_011522966.3:c.1646G>A	XP_011521268.1:p.Arg549His
XM_011522967.1:c.1472G>A	XP_011521269.1:p.Arg491His
XM_017023083.1:c.1646G>A	XP_016878572.1:p.Arg549His