Canonical Allele Identifier: CA2838198202

Gene: GLIS1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53582094T>C , CM000663.2:g.53582094T>C	GRCh38
NC_000001.10:g.54047767T>C , CM000663.1:g.54047767T>C	GRCh37
NC_000001.9:g.53820355T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000628545.2:c.1320+12014A>G MANE Select	ENSP00000486112.1:n.1320+12014A>G
ENST00000312233.4:c.795+12014A>G	ENSP00000309653.2:n.795+12014A>G
ENST00000628545.1:c.1320+12014A>G	ENSP00000486112.1:n.1320+12014A>G
NM_147193.2:c.795+12014A>G	NP_671726.2:n.795+12014A>G
XM_011540785.1:c.795+12014A>G	XP_011539087.1:n.795+12014A>G
XM_017000408.1:c.1320+12014A>G	XP_016855897.1:n.1320+12014A>G
XM_017000409.1:c.1320+12014A>G	XP_016855898.1:n.1320+12014A>G
XM_017000410.1:c.1320+12014A>G	XP_016855899.1:n.1320+12014A>G
XM_017000411.1:c.1320+12014A>G	XP_016855900.1:n.1320+12014A>G
XM_017000412.1:c.*588A>G	XP_016855901.1:n.*588A>G
NM_001367484.1:c.1320+12014A>G MANE Select	NP_001354413.1:n.1320+12014A>G
NM_001390836.1:c.1344+8911A>G	NP_001377765.1:n.1344+8911A>G
NM_001390837.1:c.1320+12014A>G	NP_001377766.1:n.1320+12014A>G
NM_001390838.1:c.1320+12014A>G	NP_001377767.1:n.1320+12014A>G
NM_147193.4:c.795+12014A>G	NP_671726.2:n.795+12014A>G