Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80213549C= , CM000679.2:g.80213549C=	GRCh38
NC_000017.10:g.78187348C= , CM000679.1:g.78187348C=	GRCh37
NC_000017.9:g.75801943C=	NCBI36
NG_008229.1:g.11852G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2845-2317C= (CARD14)
ENST00000326317.11:c.745+255G= (SGSH) MANE Select	ENSP00000314606.6:n.745+255G=
ENST00000326317.10:c.745+255G= (SGSH)	ENSP00000314606.6:n.745+255G=
ENST00000570923.1:c.780+255G= (SGSH)	ENSP00000458200.1:n.780+255G=
ENST00000572257.5:c.347+255G= (SGSH)
ENST00000573150.5:c.639+255G= (SGSH)	ENSP00000459280.1:n.639+255G=
ENST00000575282.5:n.1295G= (SGSH)
ENST00000576941.5:c.*161+255G= (SGSH)	ENSP00000461160.1:n.*161+255G=
NM_000199.3:c.745+255G= (SGSH)	NP_000190.1:n.745+255G=
XM_005257582.2:c.745+255G= (SGSH)	XP_005257639.1:n.745+255G=
XM_005257583.3:c.745+255G= (SGSH)	XP_005257640.1:n.745+255G=
XM_011525126.1:c.745+255G= (SGSH)	XP_011523428.1:n.745+255G=
XM_011525127.1:c.745+255G= (SGSH)	XP_011523429.1:n.745+255G=
XR_934532.1:n.765+255G= (SGSH)
NM_000199.4:c.745+255G= (SGSH)	NP_000190.1:n.745+255G=
NM_001352921.1:c.745+255G= (SGSH)	NP_001339850.1:n.745+255G=
NM_001352922.1:c.745+255G= (SGSH)	NP_001339851.1:n.745+255G=
NR_148201.1:n.726+255G= (SGSH)
XM_005257583.4:c.745+255G= (SGSH)	XP_005257640.1:n.745+255G=
XM_017024952.1:c.745+255G= (SGSH)	XP_016880441.1:n.745+255G=
XR_001752585.1:n.765+255G= (SGSH)
XR_001752586.1:n.765+255G= (SGSH)
XR_001752587.1:n.765+255G= (SGSH)
XR_001752588.1:n.765+255G= (SGSH)
XR_001752589.1:n.765+255G= (SGSH)
XR_001752590.1:n.765+255G= (SGSH)
XR_001752591.1:n.765+255G= (SGSH)
XR_001752592.1:n.765+255G= (SGSH)
XR_002958057.1:n.765+255G= (SGSH)
XR_934532.2:n.765+255G= (SGSH)
NM_000199.5:c.745+255G= (SGSH) MANE Select	NP_000190.1:n.745+255G=
NM_001352921.2:c.745+255G= (SGSH)	NP_001339850.1:n.745+255G=
NM_001352922.2:c.745+255G= (SGSH)	NP_001339851.1:n.745+255G=
NR_148201.2:n.659+255G= (SGSH)
NM_001352921.3:c.745+255G= (SGSH)	NP_001339850.1:n.745+255G=