Canonical Allele Identifier: CA736919971

Gene: GLIS1

Linked Data

• dbSNP Id: rs1478372466
• gnomAD v3: 1-53683586-C-T
• gnomAD v4: 1-53683586-C-T
• MyVariant Identifiers: chr1:g.54149259C>T (hg19) ; chr1:g.53683586C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53683586C>T , CM000663.2:g.53683586C>T	GRCh38
NC_000001.10:g.54149259C>T , CM000663.1:g.54149259C>T	GRCh37
NC_000001.9:g.53921847C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000628545.2:c.259+54220G>A MANE Select	ENSP00000486112.1:n.259+54220G>A
ENST00000312233.4:c.-267+50318G>A	ENSP00000309653.2:n.-267+50318G>A
ENST00000628545.1:c.259+54220G>A	ENSP00000486112.1:n.259+54220G>A
NM_147193.2:c.-267+50318G>A	NP_671726.2:n.-267+50318G>A
XM_011542547.1:c.521-41771G>A	XP_011540849.1:n.521-41771G>A
XM_017000408.1:c.259+54220G>A	XP_016855897.1:n.259+54220G>A
XM_017000409.1:c.259+54220G>A	XP_016855898.1:n.259+54220G>A
XM_017000410.1:c.259+54220G>A	XP_016855899.1:n.259+54220G>A
XM_017000411.1:c.259+54220G>A	XP_016855900.1:n.259+54220G>A
XM_017000412.1:c.259+54220G>A	XP_016855901.1:n.259+54220G>A
NM_001367484.1:c.259+54220G>A MANE Select	NP_001354413.1:n.259+54220G>A
NM_001390836.1:c.259+54220G>A	NP_001377765.1:n.259+54220G>A
NM_001390837.1:c.259+54220G>A	NP_001377766.1:n.259+54220G>A
NM_001390838.1:c.259+54220G>A	NP_001377767.1:n.259+54220G>A
NM_147193.4:c.-267+50318G>A	NP_671726.2:n.-267+50318G>A