Canonical Allele Identifier: CA1140069140

Gene: GLIS1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53512446A= , CM000663.2:g.53512446A=	GRCh38
NC_000001.10:g.53978119A= , CM000663.1:g.53978119A=	GRCh37
NC_000001.9:g.53750707A=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000628545.2:c.1883+2179T= MANE Select	ENSP00000486112.1:n.1883+2179T=
ENST00000312233.4:c.1358+2179T=	ENSP00000309653.2:n.1358+2179T=
ENST00000628545.1:c.1883+2179T=	ENSP00000486112.1:n.1883+2179T=
NM_147193.2:c.1358+2179T=	NP_671726.2:n.1358+2179T=
XM_011540785.1:c.*444T=	XP_011539087.1:n.*444T=
XM_017000408.1:c.1883+2179T=	XP_016855897.1:n.1883+2179T=
XM_017000409.1:c.1871+2179T=	XP_016855898.1:n.1871+2179T=
XM_017000410.1:c.1883+2179T=	XP_016855899.1:n.1883+2179T=
XM_017000411.1:c.1883+2179T=	XP_016855900.1:n.1883+2179T=
NM_001367484.1:c.1883+2179T= MANE Select	NP_001354413.1:n.1883+2179T=
NM_001390836.1:c.1907+2179T=	NP_001377765.1:n.1907+2179T=
NM_001390837.1:c.1883+2179T=	NP_001377766.1:n.1883+2179T=
NM_001390838.1:c.1883+2179T=	NP_001377767.1:n.1883+2179T=
NM_147193.4:c.1358+2179T=	NP_671726.2:n.1358+2179T=